Pneumonia in Children With Complex Chronic Conditions With Tracheostomy: An Emerging Challenge.

BACKGROUND: Despite respiratory infections being a leading cause of hospitalization in children with tracheostomy tubes, there are no published guidelines for their diagnosis and management. This study aims to outline the clinical, laboratory and microbiological aspects of pneumonia in these children, along with the antibiotics used and outcomes. Additionally, it seeks to determine pneumonia incidence and associated risk factors. METHODS: We conducted a retrospective study using the medical records of tracheostomized children at La Paz University Hospital in Madrid from 2010 to 2021. RESULTS: Thirty-three pneumonia cases were observed in 25 tracheostomized children. Pseudomonas aeruginosa was the predominant bacterium (52%), followed by Escherichia coli, Staphylococcus aureus and Serratia marcescens. The same microorganism isolated in the tracheal aspirate culture during pneumonia was previously isolated in 83% of cases that had a similar culture, with some growth obtained within 7-30 days prior. Multiplex respiratory PCR detected respiratory viruses in 73% of cases tested. Antibiotic treatment was administered in all cases except 1, mostly intravenously (81%), with piperacillin/tazobactam and meropenem being commonly used. Only 1 of the described episodes had a fatal outcome. CONCLUSIONS: It is advisable to include coverage for P. aeruginosa, E. coli, S. aureus, and S. marcescens in the empirical antibiotic treatment for pneumonia in tracheostomized children, along with the microorganisms identified in tracheal cultures obtained within 7-30 days prior, if available. A positive PCR for respiratory viruses is often discovered in bacterial pneumonia in tracheostomized children.

El niño con patología crónica y complejidad: ¿cuál es el camino? / Children with medical complexity. What is the way?

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Situación actual del paciente pediátrico con patología crónica compleja: una experiencia entre atención primaria y hospitalaria / Current situation of children with medical complexity: An experience between primary and hospital care

Objetivo: Analizar la valoración de la atención a los niños con patología crónica compleja (NPCC) en atención primaria (AP), desde el punto de vista de sus médicos y de sus familias. Diseño: Estudio observacional, descriptivo y transversal. Emplazamiento: Pediatría de AP y unidad de patología crónica compleja (UPCC) del Hospital Universitario La Paz (HULP). Participantes: Pacientes y familiares de la UPCC y sus médicos de AP de la Comunidad de Madrid (CAM). Intervenciones: Realización de encuestas validadas presenciales y online. Mediciones principales: Grado de satisfacción en la formación, capacitación y manejo específico del NPCC según escalas tipo Likert. Resultados: Se encuestaron 53 familias y 170 médicos de AP (96,5% pediatras). Los resultados de la encuesta a familiares revelan descoordinación entre niveles asistenciales (73,6%), escasa confianza en el primer nivel asistencial e impresión de poca capacidad de resolución de problemas por parte de pediatría de AP (50%). Entre los médicos de AP destaca la poca formación para el seguimiento de los NPCC (96,5%), escasa experiencia en su manejo (93%) e insuficiente comunicación con el hospital (80,5%). La falta de tiempo en las consultas es un problema común, percibido por pediatras y pacientes. Conclusiones: La falta de coordinación entre AP y atención hospitalaria (AH) se detecta como un problema importante en la continuidad asistencial de NPCC. Son necesarias intervenciones que mejoren esta coordinación. La AP es cercana a la familia, pero precisa mejorar la formación y capacitación de los profesionales en problemas de salud y soporte tecnificado de NPCC, así como incrementar el tiempo necesario para su atención.(AU)

Objective: To analyze the assessment of the care of children with medical complexity (CMC) in Primary Care (PC), from the point of view of their doctors and their families. Design: Observational, descriptive and transversal study. Site: PC Pediatrics and Complex Chronic Pathology Unit (UPCC) of Hospital Universitario La Paz (HULP). Participants: Patients and relatives of the UPCC and their PC physicians of the Community of Madrid (CAM). Interventions: Face-to-face and online validated surveys were conducted. Main measurements: Degree of satisfaction in the training, education and specific management of the CMC according to Likert-type scales. Results: Fifty-three families and 170 PC physicians (96.5% pediatricians) were surveyed. The results of the family survey reveal lack of coordination between levels of care (73.6%), little confidence in the first level of care, and an impression of poor problem-solving capacity by PC pediatricians (50%). Among PC physicians, there is little training in the follow-up of CMC (96.5%), little experience in their management (93%) and insufficient communication with the hospital (80.5%). Lack of time in consultations is a common problem, perceived by pediatricians and patients. Conclusions: The lack of coordination between PC and Hospital Care is detected as an important problem in the continuity of care at CMC. Interventions are needed to improve this coordination. The PC is close to the family but needs to improve the education and training of professionals in health problems and technical support from CMC, as well as increase the time necessary for their care.(AU)

[Current situation of children with medical complexity: An experience between primary and hospital care]. / Situación actual del paciente pediátrico con patología crónica compleja: una experiencia entre atención primaria y hospitalaria.

OBJECTIVE: To analyze the assessment of the care of children with medical complexity (CMC) in Primary Care (PC), from the point of view of their doctors and their families. DESIGN: Observational, descriptive and transversal study. SITE: PC Pediatrics and Complex Chronic Pathology Unit (UPCC) of Hospital Universitario La Paz (HULP). PARTICIPANTS: Patients and relatives of the UPCC and their PC physicians of the Community of Madrid (CAM). INTERVENTIONS: Face-to-face and online validated surveys were conducted. MAIN MEASUREMENTS: Degree of satisfaction in the training, education and specific management of the CMC according to Likert-type scales. RESULTS: Fifty-three families and 170 PC physicians (96.5% pediatricians) were surveyed. The results of the family survey reveal lack of coordination between levels of care (73.6%), little confidence in the first level of care, and an impression of poor problem-solving capacity by PC pediatricians (50%). Among PC physicians, there is little training in the follow-up of CMC (96.5%), little experience in their management (93%) and insufficient communication with the hospital (80.5%). Lack of time in consultations is a common problem, perceived by pediatricians and patients. CONCLUSIONS: The lack of coordination between PC and Hospital Care is detected as an important problem in the continuity of care at CMC. Interventions are needed to improve this coordination. The PC is close to the family but needs to improve the education and training of professionals in health problems and technical support from CMC, as well as increase the time necessary for their care.

Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder.

In pleiotropic diseases, multiple organ systems are affected causing a variety of clinical manifestations. Here, we report a pleiotropic disorder with a unique constellation of neurological, endocrine, exocrine, and haematological findings that is caused by biallelic MADD variants. MADD, the mitogen-activated protein kinase (MAPK) activating death domain protein, regulates various cellular functions, such as vesicle trafficking, activity of the Rab3 and Rab27 small GTPases, tumour necrosis factor-α (TNF-α)-induced signalling and prevention of cell death. Through national collaboration and GeneMatcher, we collected 23 patients with 21 different pathogenic MADD variants identified by next-generation sequencing. We clinically evaluated the series of patients and categorized the phenotypes in two groups. Group 1 consists of 14 patients with severe developmental delay, endo- and exocrine dysfunction, impairment of the sensory and autonomic nervous system, and haematological anomalies. The clinical course during the first years of life can be potentially fatal. The nine patients in Group 2 have a predominant neurological phenotype comprising mild-to-severe developmental delay, hypotonia, speech impairment, and seizures. Analysis of mRNA revealed multiple aberrant MADD transcripts in two patient-derived fibroblast cell lines. Relative quantification of MADD mRNA and protein in fibroblasts of five affected individuals showed a drastic reduction or loss of MADD. We conducted functional tests to determine the impact of the variants on different pathways. Treatment of patient-derived fibroblasts with TNF-α resulted in reduced phosphorylation of the extracellular signal-regulated kinases 1 and 2, enhanced activation of the pro-apoptotic enzymes caspase-3 and -7 and increased apoptosis compared to control cells. We analysed internalization of epidermal growth factor in patient cells and identified a defect in endocytosis of epidermal growth factor. We conclude that MADD deficiency underlies multiple cellular defects that can be attributed to alterations of TNF-α-dependent signalling pathways and defects in vesicular trafficking. Our data highlight the multifaceted role of MADD as a signalling molecule in different organs and reveal its physiological role in regulating the function of the sensory and autonomic nervous system and endo- and exocrine glands.

Unidad de niños con patología crónica compleja. Un modelo necesario en nuestros hospitales / Children's medically complex diseases unit. A model required in all our hospitals

Introducción: El incremento de la supervivencia de niños con enfermedades graves ha supuesto el aumento de niños con patología crónica altamente compleja, en ocasiones con discapacidades de por vida. En el año 2008 se creó una unidad para la atención específica de los niños con patología crónica compleja (NPCC) en el Hospital La Paz. Objetivos: Describir el funcionamiento y la actividad asistencial de esta unidad. Pacientes y métodos Se analizaron todos los informes de alta de la unidad entre enero de 2014 y julio de 2016. Resultados: La unidad dispone de consulta y 6 camas de hospitalización. Se han atendido 1.027 pacientes, 243 desde 2014. La mediana de edad fue de 24,2 meses (IC: 10,21-84,25). Un 92,59% presentaron pluripatología, siendo las condiciones crónicas más frecuentemente observadas las neurológicas (76,95%), gastrointestinales (63,78%) y respiratorias (61,72%). Un 69,54% de los NPCC fueron dependientes de tecnología, el 53,49% de soporte respiratorio y el 35,80% nutricional. El número de ingresos ha aumentado anualmente, hasta 403 desde 2014, con un 8,93% de reingresos. La mediana de la estancia fue de 6 días (IC: 3-14). La tasa de ocupación fue superior al 100% en este período. En la actualidad se mantienen en seguimiento 210 pacientes (86,42%), 11 niños han sido dados de alta a sus hospitales de referencia y 22 han fallecido (9,05%). De estos 22 pacientes, la principal condición fue neurológica, y la principal causa desencadenante del fallecimiento fue infecciosa. Conclusión: La unidad de NPCC ha incrementado su actividad en estos años, poniendo de manifiesto la necesidad de crear estas unidades en los hospitales terciarios (AU)

Introduction: The increase in survival of children with severe diseases has led to the rise of children with chronic diseases, sometimes with lifelong disabilities. In 2008, a unit for the specific care of medically complex children (MCC) was created in Hospital La Paz. Objectives: To describe the work and care activities of this Unit. Patients and methods An analysis was performed on all discharge reports of the Unit between January 2014 and July 2016. Results: The MCC Unit has 6 beds and daily outpatient clinic. A total of 1,027 patients have been treated since the creation of the unit, with 243 from 2014. The median age was 24.2 months (IQ: 10.21-84.25). The large majority (92.59%) have multiple diseases, the most frequent chronic conditions observed were neurological (76.95%), gastrointestinal (63.78%), and respiratory diseases (61.72%). More than two-thirds (69.54%) of MCC are dependent on technology, 53.49% on respiratory support, and 35.80% on nutritional support. Hospital admission rates have increased annually. There have been 403 admissions since 2014, of which 8.93% were re-admissions within 30 days of hospital discharge. The median stay during 2014-2016 was 6 days (IQ: 3-14). The occupancy rate has been above 100% for this period. Currently, 210 patients remain on follow-up (86.42%), and 11 children (4.53%) were discharged to their referral hospitals. The mortality rate is 9.05% (22 deaths). The main condition of these 22 patients was neurological (9 patients). Infectious diseases were the leading cause of death. Conclusion: MCC should be treated in specialized units in tertiary or high-level hospitals (AU)

[Children's medically complex diseases unit. A model required in all our hospitals]. / Unidad de niños con patología crónica compleja. Un modelo necesario en nuestros hospitales.

INTRODUCTION: The increase in survival of children with severe diseases has led to the rise of children with chronic diseases, sometimes with lifelong disabilities. In 2008, a unit for the specific care of medically complex children (MCC) was created in Hospital La Paz. OBJECTIVES: To describe the work and care activities of this Unit. Patients and methods An analysis was performed on all discharge reports of the Unit between January 2014 and July 2016. RESULTS: The MCC Unit has 6 beds and daily outpatient clinic. A total of 1,027 patients have been treated since the creation of the unit, with 243 from 2014. The median age was 24.2 months (IQ: 10.21-84.25). The large majority (92.59%) have multiple diseases, the most frequent chronic conditions observed were neurological (76.95%), gastrointestinal (63.78%), and respiratory diseases (61.72%). More than two-thirds (69.54%) of MCC are dependent on technology, 53.49% on respiratory support, and 35.80% on nutritional support. Hospital admission rates have increased annually. There have been 403 admissions since 2014, of which 8.93% were re-admissions within 30 days of hospital discharge. The median stay during 2014-2016 was 6 days (IQ: 3-14). The occupancy rate has been above 100% for this period. Currently, 210 patients remain on follow-up (86.42%), and 11 children (4.53%) were discharged to their referral hospitals. The mortality rate is 9.05% (22 deaths). The main condition of these 22 patients was neurological (9 patients). Infectious diseases were the leading cause of death. CONCLUSION: MCC should be treated in specialized units in tertiary or high-level hospitals.