ABSTRACT Purpose: This study investigated the relationship between blood pressure and intraocular pressure in treatmentnaive, non-glaucoma patients with different blood pressure statuses, focusing on the 24-h ocular volume and nocturnal blood pressure decline. Methods: Treatment-naive, non-glaucoma patients undergoing hypertension evaluation were enrolled as study participants. Simultaneous 24-h ambulatory blood pressure measurement and 24-h ocular volume recording with a contact lens sensor. We also compared ocular volume curve parameters between normotensive and hypertensive patients, as well as between those with and without nocturnal blood pressure decline. Results: A total of 21 patients, including 7 normotensive and 14 treatment-naive hypertensive individuals, were included in the study. of them, 11 were dippers and 10 were non-dippers. No significant difference in the 24-h ocular volume slope was observed between the hypertensive and normotensive patients (p=0.284). However, dippers had a significantly higher 24-h ocular volume slope (p=0.004) and nocturnal contact lens sensor output (p=0.041) than non-dippers. Conclusion: Nocturnal blood pressure decline, rather than the blood pressure level, is associated with the increased 24-h ocular volume slope and nocturnal ocular volume. Further studies are required to determine whether the acceleration of glaucoma progression in dippers is primarily due to low blood pressure, high intraocular pressure, or a combination of both. Purpose treatmentnaive nonglaucoma non statuses 24h h 24 decline Methods Treatmentnaive, Treatmentnaive Treatment naive, naive Treatment-naive participants Results 2 1 treatment individuals them nondippers. nondippers dippers. non-dippers p=0.284. p0284 p p=0.284 . 0 284 (p=0.284) However p=0.004 p0004 004 (p=0.004 p=0.041 p0041 041 (p=0.041 Conclusion level both p028 p=0.28 28 (p=0.284 p=0.00 p000 00 (p=0.00 p=0.04 p004 04 (p=0.04 p02 p=0.2 (p=0.28 p=0.0 p00 (p=0.0 p0 p=0. (p=0.2 (p=0. p=0 (p=0 p= (p= (p

Abstract Introduction: Acoustic communication is essential in anuran communities, particularly for reproduction. However, the acoustic space is limited, and bioacoustic interferences, such as competition for mating and resources, impact the effectiveness of communication. The tropical dry forest in Colombia hosts resilient anuran species that have endured significant reduction, fragmentation, and transformation over the past decades. The scarce research on this topic underscores the importance of acoustically characterizing anuran assemblages to understand species coexistence, monitor changes in the community, and evaluate the impact of both invasive species and human activity on the ecosystem. Objective: To acoustically characterize an anuran assemblage in the Cauca River Valley. Methods: From September to November 2022 (rainy season), acoustic recordings were obtained using passive and active acoustic sensors from an anuran community in the geographical Cauca River Valley, on the western flank of the Central Cordillera in Colombia. Anuran advertisement calls were analyzed in three dimensions: spectral parameters, temporal patterns, and acoustic activity. Results: Five anuran species were recorded, exhibiting high overlap in activity but significant structural differences in their calls. The species were predominantly nocturnal, except for one from the dendrobatid family. Conclusions: Each species presents a distinct acoustic niche, avoiding overlap in acoustic signals. These findings establish a baseline for assessing future changes in the assemblage.

Resumen Introducción: La comunicación acústica es esencial en las comunidades de anuros, especialmente para la reproducción. No obstante, el espacio acústico es limitado y las interferencias bioacústicas, como la competencia por apareamiento y recursos, afectan la eficacia de la comunicación. El bosque seco tropical en Colombia alberga especies de anuros que han sido resilientes a la gran reducción, fragmentación y transformación de este en las últimas décadas. La investigación escasa en este tema subraya la importancia de la caracterización acústica de los ensamblajes de anuros, para comprender la coexistencia de especies, monitorear cambios en la comunidad y evaluar el impacto tanto de especies invasoras como de la actividad humana en el ecosistema. Objetivo: Caracterizar acústicamente un ensamblaje de anuros del valle del río Cauca. Métodos: De septiembre a noviembre de 2022 (temporada lluviosa), se tomaron registros acústicos con sensores acústicos pasivos y activos de una comunidad de anuros del valle geográfico del río Cauca, en el flanco occidental de la cordillera central de Colombia. Se analizaron los cantos de anuncio en tres dimensiones: parámetros espectrales, temporales y patrones de actividad acústica. Resultados: Se registraron cinco especies de anuros, sus cantos presentaron un alto solapamiento en actividad, pero grandes diferencias estructurales, las especies tuvieron actividad nocturna a excepción de una de la familia Dendrobatidae. Conclusiones: Cada especie presenta un nicho acústico particular que evita el traslape en las señales acústicas, y estos resultados proporcionan una línea base para evaluar futuros cambios en el ensamblaje.

Abstract Introduction: Urban development and expansion have led to the loss and transformation of Andean ecosystems. However, remnant forests that maintain biodiversity still exist around Colombia’s major cities, but these forests are threatened by the road infrastructure. Road ecology in the Neotropics has been focused specifically in documenting the effects of roadkill from a taxonomic point of view, mainly in rural areas. Objective: To evaluate ecologically and spatially, the collision of fauna on roads located in areas of urban expansion in the Northern Colombian Andes. Methods: We assessed vertebrate mortality rate and identified the critical areas of roadkill by taxonomic and functional groups. This was achieved through spatial ecology analysis, specifically Kernel density analysis and hotspot spatial statistical analysis. Additionally, we identified landscape features associated with road mortality and assessed the role of roads as resistance and permeability factors. Results: A total of 279 roadkilled animals belonging to 64 species were found, accounting for 28 % of the 273 vertebrate species recorded in the reserve near the studied roads. The average mortality rate for vertebrates was estimated from 42 to 170 individuals annually. Differential patterns were detected in roadkill density across taxonomic and functional groups, where nocturnal species and the trophic guilds are the most vulnerable. Likewise, it was found that the sections of the roads close to the forest have a greater roadkill species richness with greater ecological requirements. These sections constitute an important resistance to species movement in the area. Conclusions: Road mortality in the study area exhibits heterogeneous spatial patterns not only at a taxonomic but also at a functional level, suggesting the deterioration of protected ecosystems in adjacent peri-urban areas.

Resumen Introducción: El desarrollo y expansión urbana han generado la pérdida y transformación de los ecosistemas andinos. Sin embargo, alrededor de las grandes ciudades colombianas aún se encuentran relictos boscosos que mantienen gran riqueza de biodiversidad, la cual es amenazada por la infraestructura vial. El énfasis de los trabajos de Ecología de Carreteras en el Neotrópico ha estado centrado en el efecto del atropellamiento de fauna desde el punto de vista taxonómico. Objetivo: Evaluar, ecológica y espacialmente, el atropellamiento de la fauna en carreteras ubicadas en zonas de interés para la expansión urbana del norte de los Andes colombianos. Métodos: Se evaluaron la tasa de mortalidad de vertebrados, las zonas críticas de atropellamientos por grupo taxonómico y grupos funcionales. Esto se realizó por medio de análisis de ecología espacial, específicamente análisis de densidad de Kernel y análisis de estadística espacial de puntos calientes. Adicionalmente, se identificó las características del paisaje asociadas al atropellamiento y se evaluó el papel de las vías como factor de resistencia y permeabilidad. Resultados: Se encontraron 279 animales atropellados de 64 especies que representan el 28 % de las 273 especies vertebradas presentes en las áreas protegidas en inmediaciones de las carreteras estudiadas. Se estimó una tasa promedio entre 42 y 170 individuos atropellados por año. Se detectaron patrones diferenciales en la densidad de atropellamiento por grupos taxonómicos y funcionales, donde las especies nocturnas y el tipo de gremio trófico son los más vulnerables. Asimismo, se encontró que los tramos de las vías en cercanía a coberturas boscosas presentan mayor riqueza de especies atropelladas y con mayores requerimientos ecológicos. Estos tramos representan una resistencia importante al movimiento de las especies de la zona. Conclusiones: El atropellamiento presenta patrones espaciales heterogéneos, no solo a nivel taxonómico, sino también a nivel funcional, lo cual representa un deterioro para los ecosistemas protegidos en zonas periurbanas.

Abstract. From an interpretative perspective, we reflect on the dichotomous and predominantly urban character of night in its broad sense. Through the analysis of the relationship between urban space and performance, we propose to examine the uses and meanings -both sym bolic and social- of urban night, which are expressed through lived experiences in a social space and time characterized by differentiated access, inequalities, and specific imaginaries that particularize and diversify cultural practices. Although the vast diversity and totality of nocturnal practices are evidently unmanageable, we introduce a methodological tool for their approach and analysis: a distinction between two broad, interrelated, complementary spheres with liminal boundaries that allow us to differentiate the uses and meanings of night, with an emphasis on labor practices. These spheres are: the private/everyday night (the nocturnal - noctis) and the social night that disrupts everyday margins (nocturnality - noctem).

Resumen. A partir de una perspectiva interpretativa, reflexionamos sobre el carácter dicotómico y predominantemente urbano de la noche en su sentido amplio. Mediante el análisis de la relación entre espacio urbano y performan ce, proponemos abordar los usos y significados -simbólicos y sociales- de la noche urbana, expresados a través de la experiencia vivida en un espacio y tiempo social cuyos accesos diferenciados, desigualdades e imaginarios particularizan y diversifican las prácticas culturales. Así, aunque la gran diversidad y totalidad de las prácticas nocturnas resulta evidentemente inabarcable, introducimos como herramienta metodológica para el acercamiento y su análisis, una distinción entre dos amplias esferas interrelacionadas, complementarias y con fronteras liminales que nos permiten diferenciar los usos y significados de la noche con énfasis en las prácticas laborales: la noche privada / cotidiana (lo nocturno - noctis) y la noche social que trastoca los márgenes cotidianos (la nocturnidad - noctem).

Abstract. This article offers an initial exploration of the process by which youth have colonized nightlife in Mexico City between 1940 and 1960. Given the paucity of historical research on youth and nocturnality, I employ several representative scenes from the film Los Caifanes (1967) as the central axis of my argumentation. The selection of these scenes is based on their recreation of age-specific practices, as identified in historical studies that address the subject tangentially. The following analysis focuses on the construction of various youth typologies, moral panics, forms of control, youthful rebellion, and the transformation of urban nightlife. A social differentiation in nocturnal entertainment forms is observed based on the social class of the youth. The concluding considerations offer a preliminary conclusion: the persistence and adaptation of the sociocultural construction of night to contemporary transformations of urban life.

Resumen. Este artículo es una primera aproximación al proceso de colonización de la vida nocturna por los jóvenes en la Ciudad de México entre 1940 y 1960. Dada la escasez de investigaciones históricas sobre las juventudes y las nocturnidades, recurro a algunas escenas representativas de Los Caifanes (1967) como eje articulador de mi argumentación. La selección de estas escenas parte de que recrean prácticas características de la edad según estudios históricos que tratan tangencialmente el tema. El siguiente análisis se enfoca en la construcción de las distintas tipologías de las juventudes, pánicos morales, formas de control, sublevación juvenil y la transformación de la vida nocturna citadina. Se observa una diferenciación social en las formas de diversión nocturna según la clase social de los jóvenes. Las consideraciones finales ofrecen una conclusión preliminar: la persistencia y la adaptación de la construcción sociocultural de la noche a las transformaciones contemporáneas de la vida citadina.

Abstract. The objective of this text is to develop an analytical proposal on the social construction of night as a specific time, which, through the material and symbolic appropriation of spaces, enables the structuring of varied nocturnal social universes among heterogeneous actors, which I call nocturnities. The contribution of this text lies in the nocturnalities of urban villages, thereby expanding the discussion on the culture of night and nocturnalities to rural and rural-urban contexts, not limiting it to urban realms and youth sectors. Methodologically, I drew on three years of fieldwork focused on nocturnal places and testimonies from their protagonists in the city of Puebla. Night is spelled out through nocturnal spaces where actors, practices, places, and significations build nocturnalities as a sociocultural construct within a specific temporality.

Resumen. El objetivo de este texto es elaborar una propuesta analítica sobre la construcción social de la noche a manera de tiempo específico que, a través de la apropiación material y simbólica de espacios, posibilita estructurar, entre actores heterogéneos, variados universos nocturnos de sociabilidad, que denomino nocturnidades. La aportación del texto son las nocturnidades de pueblos urbanos, con ello la discusión sobre la cultura de la no che y las nocturnidades se expande a los contextos rurales y rural-urbanos y no se queda en los ámbitos urbanos y en los sectores de jóvenes. Metodológicamente recurrí al trabajo de campo realizado durante tres años, centrado en lugares nocturnos y testimonios de sus protagonistas en la ciudad de Puebla. La noche se deletrea por espacios nocturnos en el que actores, prácticas, lugares y significaciones edifican nocturnidades como un constructo sociocultural en una temporalidad específica.

BACKGROUND. Enuresis, also referred to as nocturnal enuresis, is characterised by discrete episodes of urinary incontinence during sleep in children aged >5 years in the absence of congenital or acquired neurological disorders. This guideline is an update of the 2017 version. RECOMMENDATIONS. The guideline provides recommendations and suggestions for various therapeutic options for enuresis available in South Africa (SA). These options include behavioural modification, urotherapy, pharmaceutical therapy, alarm therapy, alternative therapies, neuromodulation, psychological support and biofeedback. Additionally, it explores the role of a voiding diary, additional investigations and mobile phone applications (apps) in treating enuresis. The document also outlines standardised definitions for clarity. CONCLUSION. This is an updated guideline endorsed by relevant key opinion leaders in SA, with additional input from international experts in the field.

ABSTRACT Background: In the diagnosis and follow-up of arterial hypertension (HTN) most practice guidelines recommend ambulatory blood pressure monitoring (ABPM). In this regard, there is increasing evidence supporting the superiority of nocturnal hy pertension (NHTN) as a predictor of cardiovascular events. Little is known about the relationship with cardiovascular events according to the severity of NHTN. Furthermore, it is unclear from what nighttime pressure value the risk begins to increase. Objectives: The aim of this study was to determine whether the presence of NHTN and its severity levels are associated with adverse cardiovascular outcomes during follow-up. Methods: An observational study was performed analyzing data collected from 24-hour ABPM studies obtained in a high complexity medical center in Buenos Aires. We examined patients’ clinical characteristics, laboratory findings, imaging studies and their results during the follow-up period. Our study included ≥18 year-old persons who had been diagnosed with hypertension. We defined NHTN as those cases with blood pressure values ≥120/70 mmHg during the nighttime period. Results: The final analysis included 981 patients. Among these, 53% were men, mean age was 59.4 years and NHTN was present in 63.6% of cases (n=624). Nocturnal HTN was classified into four severity strata for comparison, according to the nighttime systolic blood pressure value: 83-119 mmHg, 120-139 mmHg, 140-159 mmHg and 160-220 mmHg. Major adverse cardiovascular events were recorded in 8 (2.2%), 17 (4.1 %), 8 (5.6%) and 7 (11.3%) subjects, respectively, and this differ ence between groups was statistically significant (p=0.007). Multivariate Cox regression analysis showed that the presence of NHTN was an independent predictor of adverse cardiovascular events (HR 3.60; 95% CI 1.12-11.5; p=0.033), even when considering the presence of daytime hypertension. Conclusion: In this contemporary cohort, NHTN and its severity were independently associated with the incidence of adverse cardiovascular events.

RESUMEN Introducción: En el diagnóstico y seguimiento de la hipertensión arterial (HTA) la mayoría de las guías de práctica recomiendan el monitoreo ambulatorio de la presión arterial (MAPA). En este sentido, existe cada vez más evidencia que respalda la superioridad de la hipertensión arterial nocturna (HTAN) como predictor de eventos cardiovasculares. Se sabe poco sobre la relación con los eventos cardiovasculares según la gravedad de la HTAN. Además, no está claro a partir de qué valor de presión arterial nocturna comienza a aumentar el riesgo. Objetivos: Conocer si la presencia de HTAN y sus niveles de gravedad se asocian con resultados cardiovasculares adversos durante el seguimiento. Material y métodos: Estudio observacional. Realizamos un análisis de los datos obtenidos en un centro médico de alta complejidad de Buenos Aires, recopilados a partir de estudios de MAPA de 24 horas. Examinamos las características clínicas de los pacientes, los resultados de laboratorio, los estudios de imagen y sus resultados durante el período de seguimiento. Nuestro estudio incluyó personas de 18 años o más a las que se les había diagnosticado hipertensión. Definimos HTAN como aquellos casos con valores de presión arterial ≥ 120/70 mmHg durante el periodo nocturno. Resultados: Fueron incluidos 981 pacientes en el análisis final. De ellos, el 53 % eran hombres; la edad media era de 59,4 años. Presentaban HTAN 63,6 % (n=624). Clasificamos la HTAN en cuatro estratos de gravedad para comparar, según el valor de presión arterial sistólica nocturna: 83-119 mmHg, 120-139 mmHg, 140-159 mmHg y 160-220 mmHg. Se registraron eventos adversos cardiovasculares mayores en 8 (2,2 %), 17 (4,1 %), 8 (5,6 %) y 7 (11,3 %) sujetos, respectivamente, y esta diferencia entre grupos fue estadísticamente significativa (p=0,007). El análisis multivariado de regresión de Cox demostró que la presencia de HTAN fue un predictor independiente de eventos cardiovasculares adversos (HR 3,60; IC 95% 1,12-11,5; p=0,033), incluso al considerar la presencia de hipertensión arterial diurna. Conclusión: En esta cohorte contemporánea, la HTAN y su gravedad se asociaron independientemente con la incidencia de eventos cardiovasculares adversos.

Resumo Introdução: A avaliação da pressão arterial (PA) tem impacto no manejo da hipertensão arterial (HA) na doença renal crônica (DRC). O portador de DRC apresenta padrão específico de comportamento da PA ao longo da monitorização ambulatorial da pressão arterial (MAPA). Objetivos: O objetivo do corrente estudo é avaliar as associações entre os estágios progressivos da DRC e alterações da MAPA. Metodologia: Trata-se de um estudo transversal com 851 pacientes atendidos nos ambulatórios de um hospital universitário que foram submetidos ao exame de MAPA no período de janeiro de 2004 a fevereiro de 2012 para avaliar a presença e o controle da HA. Os desfechos considerados foram os parâmetros de MAPA. A variável de interesse foi o estadiamento da DRC. Foram considerados como fatores de confusão idade, sexo, índice de massa corporal, tabagismo, causa da DRC e uso de anti-hipertensivos. Resultados: A PA sistólica (PAS) se associou aos estágios 3b e 5 da DRC, independentemente das variáveis de confusão. Pressão de pulso se associou apenas ao estágio 5. O coeficiente de variação da PAS se associou progressivamente aos estágios 3a, 4 e 5, enquanto o coeficiente de variação da pressão arterial diastólica (PAD) não demonstrou associação. O descenso da PAS obteve associação com estágios 2, 4 e 5, e o descenso da PAD, com os 4 e 5. Demais parâmetros da MAPA não obtiveram associação com os estágios da DRC após os ajustes. Conclusão: Estágios mais avançados da DRC associaram-se a menor descenso noturno e a maior variabilidade da pressão arterial. Introdução (PA HA (HA . (DRC) (MAPA) Objetivos Metodologia Tratase Trata 85 200 201 idade sexo corporal tabagismo antihipertensivos. antihipertensivos anti hipertensivos. hipertensivos anti-hipertensivos Resultados (PAS b 3a PAD (PAD 2 ajustes Conclusão associaramse associaram (DRC (MAPA 8 20

Abstract Introduction: Blood pressure (BP) assessment affects the management of arterial hypertension (AH) in chronic kidney disease (CKD). CKD patients have specific patterns of BP behavior during ambulatory blood pressure monitoring (ABPM). Objectives: The aim of the current study was to evaluate the associations between progressive stages of CKD and changes in ABPM. Methodology: This is a cross-sectional study with 851 patients treated in outpatient clinics of a university hospital who underwent ABPM examination from January 2004 to February 2012 in order to assess the presence and control of AH. The outcomes considered were the ABPM parameters. The variable of interest was CKD staging. Confounding factors included age, sex, body mass index, smoking, cause of CKD, and use of antihypertensive drugs. Results: Systolic BP (SBP) was associated with CKD stages 3b and 5, irrespective of confounding variables. Pulse pressure was only associated with stage 5. The SBP coefficient of variation was progressively associated with stages 3a, 4 and 5, while the diastolic blood pressure (DBP) coefficient of variation showed no association. SBP reduction was associated with stages 2, 4 and 5, and the decline in DBP with stages 4 and 5. Other ABPM parameters showed no association with CKD stages after adjustments. Conclusion: Advanced stages of CKD were associated with lower nocturnal dipping and greater variability in blood pressure. Introduction (BP AH (AH CKD. . (CKD) (ABPM) Objectives Methodology crosssectional cross sectional 85 200 201 staging age sex index smoking drugs Results (SBP b 5 variables 3a (DBP 2 adjustments Conclusion (CKD (ABPM 8 20

Abstract A 33-year-old man with two bilateral tonic-clonic seizures of unknown onset 12 years earlier was admitted to our epilepsy monitoring unit for characterization of his nocturnal groaning spells suspicious for catathrenia. Video-scalp electroencephalogram (EEG) was suggestive of drug-resistant non-lesional localization-related focal epilepsy in the right hemisphere. Intracranial EEG showed right frontal opercular origin of seizures with insular spread as the cause of his spells. This illustrative case shows the importance of video-EEG monitoring to distinguish nocturnal frontal opercular seizures from catathrenia. We review the evidence on distinguishing the two disorders.

Resumen Un hombre de 33 años con dos crisis epilépticas tónico-clónicas bilaterales de inicio desconocido quien 12 años antes ingresó en nuestra unidad de monitorización de epilepsia para la caracterización de sus ataques de gemidos nocturnos sospechosos de catatrenia. El video-electroencefalograma (EEG) de piel cabelluda sugirió epilepsia focal relacionada con la localización no lesional resistente a los medicamentos en el hemisferio derecho. El EEG intracraneal mostró un origen opercular frontal derecho de las crisis epilépticas con extensión insular como causa de sus ataques. Este caso ilustrativo muestra la importancia de la monitorización por video-EEG para distinguir las crisis epilépticas operculares frontales nocturnas de la catatrenia. Revisamos la evidencia para distinguir los dos trastornos.

Abstract Background: Extraintestinal manifestations (EIM) are common in children and adults and their presence is associated with a higher severity of inflammatory bowel disease (IBD). In pediatrics, studies are scarce in Latin America and do not exist in Colombia. Objective: To describe the prevalence of EIM in children with IBD and the associated demographic, clinical, and biochemical characteristics. Methodology: Retrospective study of patients diagnosed with pediatric-onset IBD between 2007 and 2022 treated at an institution in Bogotá. A descriptive analysis was performed and in the groups with and without EIM clinical and biochemical variables were compared using Fisher’s exact test, Student’s T, and Mann-Whitney’s U. Results: Of 71 confirmed cases, 45% had typical ulcerative colitis, 27% Crohn’s disease, 7% atypical ulcerative colitis, 1.4% colonic Crohn’s, and 20% unclassifiable IBD. Thirteen patients (18%) had at least one EIM, and mucocutaneous was the most frequent (58%). The time from symptoms onset to diagnosis was higher in the EIM group (13.2 years vs. 10.2 years; p = 0.02). Nocturnal diarrhea, hyporexia, and weight loss were more frequent in children with EIM. The EIM group showed lower hemoglobin levels, and higher globular sedimentation rate, and received biologics more frequently (38% vs. 23%, p = 0.2). Conclusions: The frequency of MEI in this series is similar to that reported in the literature; its presence is associated with higher disease severity, higher frequency of biological use, and longer time IBD diagnosis.

Resumen Antecedentes: Las manifestaciones extraintestinales (MEI) son comunes en niños y adultos y su presencia se asocia con mayor gravedad en la enfermedad inflamatoria intestinal (EII). En pediatría, los estudios son escasos en Latinoamérica y no existen en Colombia. Objetivo: Describir la prevalencia de las MEI en niños con EII y las características demográficas, clínicas y bioquímicas asociadas. Metodología: Estudio retrospectivo de pacientes diagnosticados con EII de inicio pediátrico entre 2007 y 2022 atendidos en una institución en Bogotá. Se realizó un análisis descriptivo y en los grupos con y sin MEI se compararon variables clínicas y bioquímicas por medio de la prueba exacta de Fisher, T de Student y U de Mann-Whitney. Resultados: De 71 casos confirmados, el 45 % tenía colitis ulcerativa típica, el 27 % enfermedad de Crohn, el 7 % colitis ulcerativa atípica, el 1,4 % Crohn colónico y el 20 % EII no clasificable. 13 pacientes (18 %) presentaron al menos una MEI, y las mucocutáneas fueron las más frecuentes (58 %). El lapso desde el inicio de los síntomas hasta el diagnóstico fue mayor en el grupo MEI (13,2 años frente a 10,2 años; p = 0,02). La diarrea nocturna, la hiporexia y la pérdida de peso fueron más frecuentes en niños con MEI. El grupo MEI mostró niveles más bajos de hemoglobina, más elevados de velocidad de sedimentación globular y recibieron biológicos con mayor frecuencia (38 % frente a 23 %, p = 0,2). Conclusiones: La frecuencia de MEI en esta serie es similar a lo reportado en la literatura; su presencia se asocia con una mayor gravedad de la enfermedad, mayor frecuencia de uso de biológicos y mayor tiempo de diagnóstico de la EII.

Abstract: Congenital Central Hypoventilation Syndrome (CCHS) is a rare genetic condition affecting the autonomic nervous system and respiratory center due to mutations in the PHOX2B gene, and it is associated with alveolar hypoventilation during sleep and sudden death. It requires early invasive mechanical ventilation (IMV). Objective: To report a neonatal case successfully treated with non-invasive ventilatory support (NVS), avoiding tracheostomy. Clinical Case: Full-term newborn, whose mother uses nocturnal NVS due to CCHS. During the transition period, she presented desaturations associated with hypercapnia and respiratory acidosis, without pulmonary involvement. She developed severe hypoventilation during sleep, with no respiratory effort, peripheral oxygen saturation (SpO2) < 80%, plus respiratory acidosis. While awake, she had good respiratory effort and normal SpO2 without assistance. Noninvasive continuous positive airway pressure and oxygen therapy worsened her condition while sleeping. Complete NVS with nasal interface and bi-level airway positive pressure, inspiratory/expiratory pressure 14-16/4 cm H2O, normalized SpO2 during sleep, and arterial blood gases while awake. Sequencing of the PHOX2B gene confirmed the presence of a heterozygous pathogenic variant with the 20/26 genotype. At 2 months of age, she was discharged maintaining NVS with nasal interface and 0 PEEP, achieving adequate neurodevelopment. Conclusion: We highlight the importance of genetic diagnosis of CCHS in neonates with clinical presentation of early alveolar hypoventilation, especially if there is a family history. We are not aware of other reports of neonatal onset in which NVS prevents IMV, in this potentially lethal pathology.

Resumen: El Síndrome de Hipoventilación Central Congénito (SHCC) es una condición genética infrecuente que afecta el sistema nervioso autónomo y centro respiratorio por mutaciones en el gen PHOX2B, se asocia a hipoventilación alveolar durante el sueño y muerte súbita. Requiere tempranamente de ventilación mecánica invasiva (VMI). Objetivo: Reportar un caso neonatal tratado exitosamente con soporte ventilatorio no invasivo (SVNI), evitando la traqueostomía. Caso Clínico: Recién nacido de término, cuya madre utiliza SVNI nocturno por SHCC. Durante el periodo de transición presentó desaturaciones asociadas a hipercapnia y acidosis respiratoria, sin compromiso pulmonar. Evolucionó con hipoventilación severa durante el sueño, sin esfuerzo respiratorio, saturación periférica de oxígeno (SpO2) < 80%, más acidosis respiratoria. En vigilia presentaba buen esfuerzo respiratorio y SpO2 normales sin asistencia. La presión positiva continua no invasiva en la vía aérea y la oxigenoterapia empeoraban su condición al dormir. El SVNI completo con interfaz nasal y presión positiva en 2 niveles, presión inspiratoria/espiratoria 14-16/4 cm H2O, normalizaron la SpO2 durante el sueño y los gases en sangre arterial en vigilia. La secuenciación del gen PHOX2B confirmó la presencia de una variante patogénica heterocigota con el genotipo 20/26. A los 2 meses de vida egresó manteniendo SVNI con interfaz nasal y PEEP 0, logrando neurodesarrollo adecuado. Conclusión: Resaltamos la importancia del diagnóstico genético del SHCC, en neonatos con presentación clínica de hipoventilación alveolar temprana, particularmente si existe el antecedente familiar. No conocemos otros reportes de debut neonatal en que el SVNI evite la VMI, en esta patología potencialmente letal.

Abstract Sleep disorders are common in children and affect neurological development with important cognitive, emotional and behavioral repercussions. There is a high prevalence of sleep disorders (SD) in neurodevelop mental disorders (NDD) such as autism spectrum dis order (ASD) and attention-deficit hyperactivity disorder (ADHD). Sleep disorders in pediatric population have a prevalence of 6-25%, while in children with NDD this number rises to 50-80%. In NDDs, higher rates of dif ficulties in falling asleep, nocturnal awakenings and daytime sleepiness are observed. Disturbances in the circadian rhythm as well as respiratory sleep disorders are also observed. Consequently, there is a decrease in alertness for daytime activities with increased be havioral disorders, emotional problems and academic difficulties associated with executive and memory dys functions. Sleep assessment has to be a systemic part in the clinical evaluation of children with NDDs, so as to give a convenient diagnosis and treatment in each case, allowing to improve the quality of life of children and their families.

Resumen Los trastornos del sueño son frecuentes en niños y afectan al desarrollo neurológico, con importante repercusión cognitiva, emocional y conductual. Existe una alta prevalencia de trastornos del sueño (TS) en los trastornos del neurodesarrollo (TND), como trastorno del espectro autista (TEA) y trastorno por déficit de atención con hiperactividad (TDAH). Los TS en población pediá trica tienen una prevalencia del 6-25%, mientras que en los niños con TND esta cifra asciende al 50-80%. En los TND se observa un incremento de las dificultades para conciliar el sueño, de los despertares nocturnos y de la somnolencia diurna. Así mismo, presentan alteracio nes del ritmo circadiano y trastornos respiratorios del sueño. Como consecuencia se produce una reducción de la alerta para las actividades diarias con incremento de trastornos conductuales, problemas emocionales y dificultades académicas asociadas a disfunciones eje cutivas y de memoria. La evaluación del sueño debe formar parte sistemática en la valoración clínica de los niños con TND, con el fin de realizar un diagnóstico y un tratamiento adecuados a cada caso, permitiendo mejorar la calidad de vida del niño y de su familia.