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1.
Arch. argent. pediatr ; 122(2): e202310165, abr. 2024. tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1537598

ABSTRACT

En la pandemia por COVID-19 se exploraron estrategias de atención para garantizar el seguimiento de niños con asma grave. Estudio prospectivo, observacional, comparativo. Se incluyeron pacientes del programa de asma grave de un hospital pediátrico de tercer nivel (n 74). Se evaluó el grado de control, exacerbaciones y hospitalizaciones durante un período presencial (PP), marzo 2019-2020, y uno virtual (PV), abril 2020-2021. En el PP, se incluyeron 74 pacientes vs. 68 (92 %) del PV. En el PP, el 68 % (46) de los pacientes presentaron exacerbaciones vs. el 46 % (31) de los pacientes en el PV (p 0,003). En el PP, se registraron 135 exacerbaciones totales vs. 79 en el PV (p 0,001); hubo una reducción del 41 %. En el PP, el 47 % (32) de los pacientes tuvieron exacerbaciones graves vs. el 32 % (22) de los pacientes en el PV (p 0,048). Hubo 91 exacerbaciones graves en el PP vs. 49 en el PV (p 0,029), reducción del 46 %. No hubo diferencias en las hospitalizaciones (PP 10, PV 6; p 0,9). La telemedicina fue efectiva para el seguimiento de pacientes con asma grave


During the COVID-19 pandemic, health care strategies were explored to ensure the follow-up of children with severe asthma. This was a prospective, observational, and comparative study. Patients in the severe asthma program of a tertiary care children's hospital were included (n: 74). The extent of control, exacerbations, and hospitalizations during an in-person period (IPP) (March 2019­2020) and an online period (OP) (April 2020­2021) was assessed. A total of 74 patients were enrolled in the IPP compared to 68 (92%) in the OP. During the IPP, 68% (46) of patients had exacerbations versus 46% (31) during the OP (p = 0.003). During the IPP, 135 total exacerbations were recorded compared to 79 during the OP (p = 0.001); this accounted for a 41% reduction. During the IPP, 47% (32) of patients had severe exacerbations versus 32% (22) during the OP (p = 0.048). A total of 91 severe exacerbations were recorded during the IPP compared to 49 during the OP (p = 0.029); the reduction was 46%. No differences were observed in terms of hospitalization (IPP: 10, OP: 6; p = 0,9). Telemedicine was effective for the follow-up of patients with severe asthma.


Subject(s)
Humans , Child , Adolescent , Asthma/diagnosis , Asthma/therapy , Asthma/epidemiology , COVID-19 , Prospective Studies , Follow-Up Studies , Pandemics , Hospitalization
2.
Arch. argent. pediatr ; 122(2): e202202948, abr. 2024. tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1537622

ABSTRACT

Objetivo. Proporcionar un marco para profesionales de la salud que tratan a pacientes pediátricos bajo terapia con glucocorticoides (GC) y desarrollar recomendaciones para la prevención y el tratamiento de la osteoporosis inducida por GC en la población pediátrica. Métodos. Un panel de expertos en enfermedades óseas y pediátricas generó una serie de preguntas PICO que abordan aspectos relacionados con la prevención y el tratamiento de osteoporosis en pacientes bajo tratamiento con GC. Siguiendo la metodología GRADE, se realizó una revisión sistemática de la literatura, se resumieron las estimaciones del efecto y se calificó la calidad de la evidencia. Luego se procedió a la votación y a la formulación de las recomendaciones. Resultados. Se desarrollaron 7 recomendaciones y 6 principios generales para osteoporosis inducida por GC en población pediátrica. Conclusión. Estas recomendaciones proporcionan orientación para los médicos que deben tomar decisiones en pacientes pediátricos bajo tratamiento con GC.


Objective. To provide a framework for healthcare professionals managing pediatric patients who are on active glucocorticoid (GC) therapy and to develop recommendations for the prevention and treatment of GC-induced osteoporosis in the pediatric population. Methods. A panel of experts on bone and pediatric diseases developed a series of PICO questions that address issues related to the prevention and treatment of osteoporosis in patients on GC therapy. In accordance with the GRADE approach, we conducted a systematic review of the literature, summarized effect estimations, and classified the quality of the evidence. Then, voting and the formulation of recommendations followed. Results. Seven recommendations and six general principles were developed for GC-induced osteoporosis in the pediatric population. Conclusion. These recommendations provide guidance for clinicians who must make decisions concerning pediatric patients undergoing treatment with GC.


Subject(s)
Humans , Child , Osteoporosis/chemically induced , Osteoporosis/prevention & control , Osteoporosis/drug therapy , Glucocorticoids/adverse effects
3.
Arch. argent. pediatr ; 122(2): e202310049, abr. 2024. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1537747

ABSTRACT

La tuberculosis es una enfermedad infectocontagiosa cuya forma de presentación más frecuente es la pulmonar; la afectación abdominal es poco frecuente, por lo que su diagnóstico continúa siendo un desafío. Las manifestaciones clínicas de la tuberculosis abdominal así como sus hallazgos en el examen físico suelen ser inespecíficos y, en muchas ocasiones, similares a los de otras patologías, por lo que es fundamental considerarla entre los diagnósticos diferenciales. Se presenta el caso clínico de un paciente de sexo masculino, de 15 años de edad, hospitalizado por un síndrome febril prolongado asociado a dolor abdominal, diarrea, sudoración nocturna y pérdida de peso


Tuberculosis is an infectious disease which most commonly compromises the respiratory system, whereas abdominal involvement is rare, thus its diagnosis is a challenge. The clinical manifestations of abdominal tuberculosis as well as its physical examination findings are usually non-specific and, frequently, similar to those of other diseases, so it is critical to consider abdominal tuberculosis among the differential diagnoses. Here we report the clinical case of a 15-year-old male patient hospitalized for a prolonged febrile syndrome associated with abdominal pain, diarrhea, night sweats, and weight loss.


Subject(s)
Humans , Male , Adolescent , Tuberculosis, Lymph Node/diagnosis , Abdomen , Abdominal Pain/etiology , Diagnosis, Differential , Diarrhea
4.
Arch. argent. pediatr ; 122(2): e202310099, abr. 2024. tab, graf
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1537971

ABSTRACT

El feocromocitoma y el paraganglioma son tumores neuroendocrinos secretores de catecolaminas. Los feocromocitomas se originan en la médula suprarrenal, mientras que los paragangliomas son extraadrenales. Se describe una serie de casos de niños con diagnóstico anatomopatológico de feocromocitoma o paraganglioma que consultaron en un hospital pediátrico de alta complejidad de Argentina. Se incluyeron 21 pacientes, 14 varones, con una mediana de edad de 11,4 años; 8 casos con feocromocitoma y 13 casos con paraganglioma. Se presentaron con hipertensión arterial 14/21. La mayoría de los paragangliomas tuvieron localización paraaórtica (9/13). Debido a que representan una causa potencialmente curable de hipertensión arterial, la sospecha clínica es muy importante. El diagnóstico temprano y la instauración de un tratamiento antihipertensivo adecuado, que permita afrontar la cirugía con normotensión arterial, aseguran la curación en la mayoría de los casos si la resección tumoral es completa.


Pheochromocytomas and paragangliomas are neuroendocrine tumors producing catecholamines. Pheochromocytomas occur in the adrenal medulla, while paragangliomas are those that occur outside the adrenal gland. Here we describe a case series of children with a pathological diagnosis of pheochromocytoma or paraganglioma who consulted at a tertiary care children's hospital in Argentina. A total of 21 patients (14 males) were included; their median age was 11.4 years; 8 children had pheochromocytoma and 13, paraganglioma. Arterial hypertension was observed in 14/21. Most paragangliomas were para-aortic (9/13). Since they are a potentially curable cause of hypertension, clinical suspicion is very important. An early diagnosis and the initiation of an adequate antihypertensive treatment, which allows the patient to undergo surgery with normal blood pressure, ensure a cure in most cases if tumor resection is complete.


Subject(s)
Humans , Child , Paraganglioma/complications , Paraganglioma/diagnosis , Pheochromocytoma/complications , Pheochromocytoma/diagnosis , Adrenal Gland Neoplasms/diagnosis , Adrenal Gland Neoplasms/therapy , Hypertension/diagnosis , Argentina , Hospitals
5.
Med. clín. soc ; 8(1)abr. 2024.
Article in Spanish | LILACS-Express | LILACS | ID: biblio-1550527

ABSTRACT

Introducción: La glomerulonefritis pos infecciosa (GNPI) en la infancia es un factor de riesgo para el desarrollo de enfermedad renal crónica a largo plazo. La adherencia al control médico permite realizar la nefroprevención secundaria. Objetivo: evaluar la relación entre los factores de riesgo relacionados a la falta de adherencia al control médico de pacientes con GNPI en una cohorte pediátrica. Metodología: estudio descriptivo de asociación cruzada de cohorte retrospectiva de pacientes internados entre enero de 2000 a diciembre de 2018 en un hospital de referencia. Se analizó la relación entre: hacinamiento, colecho, escolaridad materna y paterna, número de hermanos, de convivientes y procedencia, con la falta de adherencia al control médico. Se utilizaron la prueba de chi cuadrado y regresión logística a un nivel de significancia de 0,05. Resultados: Se incluyeron 148 pacientes (103 niños y 45 niñas) entre 2 a 16 años (edad promedio: 8,5± 3,4 años). La falta de adherencia fue encontrada en 73 pacientes (49,3%) que se asoció a procedencia rural (p= 0,012, RR: 1,50, IC95%: 1,10-2,06), baja escolaridad materna (p= 0,046, IC95%: 1,54:1,14-2,08), baja escolaridad paterna (p= 0,02; RR: 1,483, IC95%: 1,09-2,01), >3 convivientes (p=0,007, RR: 1,630, IC95%: 1,21-2,19), colecho (p=0,026; RR: 1,52, IC95%: 1,02-2,27) y hacinamiento (p<0,0001; RR: 1,92, IC95%: 1,39-2,65). Por regresión logística, el hacinamiento (p=0,005; OR= 4,8) y procedencia rural (p=0,022; OR: 2,4) se mantuvieron asociados a la falta de adherencia. Discusión: El hacinamiento y la procedencia rural se asociaron en forma independiente con la pérdida de seguimiento. Se recomienda mayor intervención de la atención primaria de salud.


Introduction: Post-infectious glomerulonephritis (PIGN) in childhood is a risk factor for the development of long-term chronic kidney disease. Adherence to medical control allows secondary nephroprevention to be carried out. Objective: to evaluate the relationship between risk factors related to non-adherence to medical control of patients with IPGN in a pediatric cohort. Methods: descriptive study, with an analytical component of a retrospective cohort of patients hospitalized between January 2000 and December 2018 in a reference hospital. The relationship between: overcrowding, co-sleeping, maternal and paternal education, number of siblings, cohabitants and origin, with lack of adherence to medical control was analyzed. The chi-square test and logistic regression were used at a significance level of 0.05. Results: a total of 148 patients (103 boys y 45 girls) between 2 and 16 years old (mean age: 8.5± 3.4 years) were included. The lack of adherence was found in 73 patients (49.3%) that was associated with rural origin (p= 0.012, RR: 1.50, 95% CI: 1.10-2.06), low maternal education (p= 0.046, 95%CI: 1.54:1.14-2.08), low paternal education (p= 0.02; RR: 1.483, 95%CI: 1.09-2.01), >3 cohabitants (p=0.007, RR: 1.630, 95% CI: 1.21-2.19), co-sleeping (p=0.026; RR: 1.52, 95% CI: 1.02-2.27) and overcrowding (p<0.0001; RR: 1.92, 95% CI: 1.39-2.65). By logistic regression, overcrowding (p=0.005; OR= 4.8) and rural origin (p=0.022; OR: 2.4) remained associated with lack of adherence. Discussion: Overcrowding and rural origin were independently associated with loss to follow-up. Greater intervention by primary health care is recommended.

6.
Arch. argent. pediatr ; 122(1): e202202972, feb. 2024. tab, graf
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1524470

ABSTRACT

Introducción. El dengue es la enfermedad transmitida por mosquitos con mayor propagación mundial en los últimos años. Presenta un amplio espectro de manifestaciones clínicas y, en ocasiones, evoluciona a un estado crítico llamado dengue grave. Su tratamiento es de sostén. La información disponible acerca de las características clínicas, epidemiológicas y de laboratorio de la enfermedad en la población pediátrica es limitada. Objetivo. Describir la epidemiología y las manifestaciones clínicas y de laboratorio de la enfermedad. Población y métodos. Estudio descriptivo, observacional y retrospectivo. Incluyó pacientes entre 1 y 180 meses asistidos por dengue probable o confirmado en un hospital de niños, desde el 01 de enero de 2020 hasta el 31 de mayo de 2020. Resultados. Se incluyeron 85 pacientes por criterios microbiológicos de positividad o clínicoepidemiológicos. Veinticinco (29 %) confirmados por RT-PCR, todos serotipos DENV-1. La mediana de  edad fue de 108 meses (rango intercuartílico: 84-144). Las principales manifestaciones clínicas fueron fiebre, cefalea y mialgias. Los hallazgos de laboratorio más importantes fueron leucopenia, trombocitopenia y elevación de transaminasas. Conclusión. El reconocimiento y la comprensión de las alteraciones clínicas y de laboratorio que se presentan durante la enfermedad pueden permitir un abordaje eficaz y contribuir a la reducción de cuadros clínicos más graves en los niños.


Introduction. Dengue has been the most widespread mosquito-borne disease worldwide in recent years. It develops with a broad spectrum of clinical manifestations and sometimes progresses to a critical condition known as severe dengue. It is managed with supportive treatment. Available information about its clinical, epidemiological, and laboratory characteristics in the pediatric population is limited. Objective. To describe the clinical, epidemiological, and laboratory characteristics of dengue. Population and methods. Descriptive, observational, and retrospective study. It included patients aged 1 to 180 months seen due to probable or confirmed dengue at a children's hospital between 1/1/2020 and 5/31/2020. Results. A total of 85 patients with positive microbiological or clinical-epidemiological criteria were included. Of these, 25 (29%) were confirmed by RT-PCR; all corresponded to DENV-1 serotype. Patients' median age was 108 months (interquartile range: 84­144). The main clinical manifestations were fever, headache, and myalgia. The most important laboratory findings were leukopenia, thrombocytopenia, and high transaminase levels. Conclusion. The recognition and understanding of clinical and laboratory alterations that occur during dengue disease may allow an effective approach and help to reduce the more severe clinical form in children.


Subject(s)
Humans , Animals , Infant , Child, Preschool , Child , Adolescent , Thrombocytopenia , Dengue/diagnosis , Dengue/epidemiology , Leukopenia , Retrospective Studies , Fever/epidemiology , Serogroup
7.
Arch. argent. pediatr ; 122(1): e202303029, feb. 2024. tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1524483

ABSTRACT

Introducción. Se describen los resultados preliminares del Programa de Acompañamiento al Sueño en la Infancia desde Terapia Ocupacional (PASITO) en niños y niñas con trastornos del neurodesarrollo (NN-TND), de 3 a 10 años, y con insomnio; realizado entre junio de 2020 y septiembre de 2021. Población y métodos. Estudio cuasiexperimental de preintervención y posintervención con un grupo de intervención y otro grupo de control, medido por el Cuestionario de Hábitos de Sueño (CHS) y el Diario de Sueño (DS). Resultados. Participaron 22 NN-TND, 8 en el grupo control. El puntaje total del CHS del grupo de intervención mejoró (p <0,001) de 54,9 (DE 5,5) a 48,4 (DE 4,5) y se acercó al rango de referencia 42,6 (DE 4,9). El DS evidenció aumento en duración, adelanto de fase de sueño y reducción en cantidad de despertares. Conclusión. Estos resultados provisorios y favorables muestran que PASITO podría ser una intervención posible para dificultades del sueño en NN-TND


Introduction. Here we describe the interim results of the Program to Support Child Sleep from the Occupational Therapy Perspective (Programa de Acompañamiento al Sueño en la Infancia desde Terapia Ocupacional, PASITO) for children with neurodevelopmental disorders (NDDs) aged 3­10 years with insomnia, conducted between June 2020 and September 2021. Population and methods. Pre- and post-intervention quasi-experiment in an intervention group and a control group using the Sleep Habits Questionnaire (SHQ) and the Consensus Sleep Diary (CSD). Results. A total of 22 children with NDDs participated, 8 in the control group. The overall SHQ score for the intervention group improved (p < 0.001) from 54.9 (SD: 5.5) to 48.4 (SD: 4.5) and moved closer to the reference range of 42.6 (SD: 4.9). The CSD showed an increased sleep duration, earlier sleep onset, and fewer night wakings. Conclusion. These interim favorable results demonstrate that the PASITO may be a possible intervention to manage sleep problems in children with NDDs.


Subject(s)
Humans , Child, Preschool , Child , Occupational Therapy , COVID-19 , Sleep Initiation and Maintenance Disorders/etiology , Sleep Initiation and Maintenance Disorders/therapy , Sleep , Pandemics
8.
Arch. argent. pediatr ; 122(1): e202310117, feb. 2024.
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1525015

ABSTRACT

El síndrome de apneas obstructivas del sueño (SAOS) en pediatría constituye un trastorno asociado a múltiples consecuencias en el espectro cognitivo y comportamental. El principal factor de riesgo asociado es la hipertrofia amigdalina y las vegetaciones adenoideas. La adenoamigdalectomía es el tratamiento de primera línea. La incidencia del SAOS persistente varía entre un 15 % y un 75 % según las comorbilidades. Este se presenta como un desafío a la hora de tratarlo; requiere un abordaje integral para su diagnóstico y tratamiento adecuado. El objetivo de esta revisión bibliográfica es proponer un abordaje diagnóstico y terapéutico para el SAOS persistente.


In pediatrics, obstructive sleep apnea syndrome (OSAS) is a disorder associated with multiple consequences at the cognitive and behavioral level. The main associated risk factor is the presence of tonsillar hypertrophy and adenoids. An adenotonsillectomy is the first-line treatment. The incidence of persistent OSAS varies from 15% to 75%, depending on comorbidities. This is a challenge in terms of management; it requires a comprehensive approach for an adequate diagnosis and treatment. The objective of this bibliographic review is to propose a diagnostic and therapeutic approach for persistent OSAS.


Subject(s)
Humans , Child , Tonsillectomy , Adenoids , Sleep Apnea, Obstructive/surgery , Sleep Apnea, Obstructive/therapy , Adenoidectomy , Polysomnography/adverse effects
9.
Arch. argent. pediatr ; 122(1): e202310163, feb. 2024. tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1525020

ABSTRACT

Introducción. La usabilidad en un sistema de teleconsulta afecta directamente la eficiencia y efectividad de la atención médica remota. Objetivo. Evaluar la usabilidad de la teleconsulta durante la pandemia por COVID-19. Población y método. Estudio de corte transversal. Incluimos a los cuidadores de niños/as de 1 mes a 12 años. Evaluamos la usabilidad mediante el Telehealth Usability Questionnaire adaptado en español. Además, evaluamos datos socioeconómicos. Resultados. Tasa de respuesta del 70,2 % (n = 221). La mayoría eran mujeres, edad promedio 33 años, con educación secundaria y cobertura de salud pública. El 87,8 % eligió atención telefónica y el 88,2 % tenía su primera teleconsulta. Alta satisfacción general con puntuaciones menores en facilidad de uso y aprendizaje en videollamadas. Conclusión. La teleconsulta mostró alta usabilidad, independientemente de la modalidad, para cuidadores de niños/as de 1 mes a 12 años.


Introduction. Usability in a telemedicine system directly affects the efficiency and effectiveness of remote health care. Objective. To assess the usability of teleconsultations during the COVID-19 pandemic. Population and method. This was a cross-sectional study. The caregivers of children aged 1 month to 12 years were included. Usability was assessed with the Telehealth Usability Questionnaire, adapted to Spanish. Socioeconomic data were also assessed. Results. The response rate was 70.2% (n = 221). Most responders were women whose average age was 33 years, had completed secondary education and had public health insurance. Of them, 87.8% selected telephone health care and 88.2% had their first teleconsultation. The overall satisfaction was high, with lower scores for ease of use and learning how to use video calls. Conclusion. Regardless of modality, the usability of teleconsultations by caregivers of children aged 1 month to 12 years was adequate.


Subject(s)
Humans , Child , Adult , Remote Consultation , COVID-19/epidemiology , Pandemics , Hospitals, Pediatric
10.
Arch. argent. pediatr ; 122(1): e202202942, feb. 2024.
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1525286

ABSTRACT

La Organización Mundial de la Salud define la salud digital como la incorporación de tecnologías de información y comunicación para mejorar la salud. En los últimos años, se vio una fuerte aceleración en la adopción de estas herramientas digitales, lo que impactó de lleno en los modelos asistenciales tradicionales. Actualmente, estamos observando el surgimiento de un gran entorno virtual inmersivo llamado metaverso. Su aparición genera nuevas y desafiantes oportunidades en la salud. En este artículo se exploran algunos conceptos relacionados con este campo, se dan ejemplos concretos de su aplicación en pediatría, se mencionan algunas experiencias en el ámbito hospitalario para finalmente adentrarse en los desafíos y oportunidades que emergen.


The World Health Organization has defined "digital health" as the use of information and communication technologies to improve health. In recent years, there has been a strong acceleration in the adoption of these digital tools, which has had a major impact on traditional healthcare models. We are currently witnessing the emergence of a large immersive virtual environment called the "metaverse." Its emergence creates new and challenging opportunities in health care. This article explores some metaverse-related concepts, provides specific examples of its use in pediatrics, describes experiences in the hospital setting, and finally delves into the resulting challenges and opportunities.


Subject(s)
Humans , Telemedicine , Communication , Information Technology , Health Facilities , Hospitals
11.
Arch. argent. pediatr ; 122(1): e202202934, feb. 2024. tab, ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1525294

ABSTRACT

La pileflebitis es definida como la trombosis supurativa de la vena porta como complicación de infecciones abdominales. En pediatría, la etiología más frecuente es la apendicitis, generalmente de diagnóstico tardío, que se presenta como sepsis, con una elevada mortalidad. Para el diagnóstico son necesarios métodos de diagnóstico por imágenes; los más utilizados son la ecografía Doppler y la angiotomografía. El tratamiento se basa en la intervención quirúrgica, la antibioticoterapia y la anticoagulación. Esta última tiene indicación controvertida, pero podría mejorar el pronóstico y disminuir la morbimortalidad. Se presenta un caso clínico de pileflebitis secundaria a sepsis por Escherichia coli con punto de partida en una apendicitis aguda, en un paciente pediátrico que evoluciona a la transformación cavernomatosa de la vena porta. Es de importancia conocer el manejo de esta entidad, ya que, una vez superado el cuadro inicial, requerirá un minucioso seguimiento por la posibilidad de evolucionar a la insuficiencia hepática.


Pylephlebitis is defined as suppurative thrombosis of the portal vein as a complication of abdominal infections. In pediatrics, the most frequent etiology is appendicitis, generally of late diagnosis, presenting as sepsis, with a high mortality rate. Imaging methods are necessary for diagnosis; the most common are the Doppler ultrasound and computed tomography angiography. Treatment is based on surgery, antibiotic therapy, and anticoagulation. The indication for the latter is controversial, but it may improve prognosis and decrease morbidity and mortality. Here we describe a clinical case of pylephlebitis secondary to Escherichia coli sepsis, which started as acute appendicitis in a pediatric patient who progressed to cavernomatous transformation of the portal vein. It is important to know the management of this disease because, once the initial symptoms are overcome, it will require close follow-up due to a potential progression to liver failure.


Subject(s)
Humans , Child , Appendicitis/diagnosis , Thrombophlebitis/diagnosis , Thrombophlebitis/etiology , Thrombophlebitis/drug therapy , Sepsis/etiology , Liver Diseases , Portal Vein , Anti-Bacterial Agents/therapeutic use
12.
Arch. argent. pediatr ; 122(1): e202303031, feb. 2024. ilus, tab
Article in English, Spanish | BINACIS, LILACS | ID: biblio-1525821

ABSTRACT

La espondiloencondrodisplasia con desregulación inmune relacionada a ACP5 (SPENCDI #607944, por la sigla de spondyloenchondrodysplasia with immune dysregulation y el número que le corresponde en OMIM, Online Mendelian Inheritance in Man) es una displasia inmuno-ósea poco frecuente con manifestaciones heterogéneas y gravedad variable. Presenta lesiones espondilometafisarias, disfunción inmune y compromiso neurológico. Se reportan aspectos clínicos, radiológicos y genéticos de cuatro niñas con SPENCDI en un hospital pediátrico. Todas presentaron manifestaciones esqueléticas y tres de ellas enfermedad inmunológica grave. Se encontró en tres pacientes la variante probablemente patogénica c.791T>A; p.Met264Lys en homocigosis, y en una paciente las variantes c.791T>A; p.Met264Lys y c.632T>C; p.lle211Thr (variante de significado incierto con predicción patogénica según algoritmos bioinformáticos) en heterocigosis compuesta en ACP5. La presencia de la variante repetida c.791T>A sugiere la posibilidad de un ancestro en común en nuestra población. El reconocimiento y diagnóstico de esta entidad es importante para lograr un oportuno abordaje, que deberá ser multidisciplinario, orientado hacia la prevención de posibles complicaciones.


Spondyloenchondrodysplasia with immune dysregulation related to ACP5 (SPENCDI, OMIM number 607944) is an uncommon immune-skeletal dysplasia with heterogeneous manifestations and variable severity. It is characterized by spondylar and metaphyseal lesions, immune dysfunction, and neurological involvement. Here we report the clinical, radiological and genetic aspects of 4 girls with SPENCDI treated at a children's hospital. They all had skeletal manifestations and 3 developed severe immune disease. In 3 patients, the likely pathogenic variant c.791T>A; p.Met264Lys (homozygous mutation) was observed, while 1 patient had variants c.791T>A; p.Met264Lys and c.632T>C; p.lle211Thr (variant of uncertain significance with pathogenic prediction based on bioinformatics algorithms) caused by a compound heterozygous mutation in ACP5. The repeated presence of variant c.791T>A suggests the possibility of a common ancestor in our population. The recognition and diagnosis of this disorder is important to achieve a timely approach, which should be multidisciplinary and aimed at preventing possible complications.


Subject(s)
Humans , Female , Child, Preschool , Child , Autoimmune Diseases , Immunologic Deficiency Syndromes/complications , Tartrate-Resistant Acid Phosphatase/genetics
13.
Arch. argent. pediatr ; 122(1): e202303034, feb. 2024. ilus
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1525833

ABSTRACT

La presentación bilateral del absceso periamigdalino es poco frecuente. Su abordaje es controversial y se discute si realizar amigdalectomía en caliente versus diferida. Se presenta el caso de un paciente de sexo masculino, de 14 años, con odinofagia, trismo y fiebre. Presentaba hipertrofia amigdalina bilateral, pilares abombados y edema de paladar blando. Tomografía computada: hipertrofia amigdalina bilateral, con realce poscontraste, ambas con colección, edema con moderada estenosis faríngea. Se decidió internación para tratamiento endovenoso y amigdalectomía con drenaje bilateral. Resolución completa del cuadro con alta a las 48 horas. Ante la presencia de un absceso periamigdalino, debe considerarse la posibilidad de un absceso contralateral oculto. Debe ser diagnosticado y tratado adecuadamente para prevenir complicaciones. La amigdalectomía en caliente podría ser un tratamiento seguro y debería ser considerado en pacientes que serán sometidos a anestesia para drenaje. La decisión final debe ser determinada para cada caso en particular.


The bilateral presentation of peritonsillar abscess is uncommon. Its management is controversial and it has been argued whether a quinsy tonsillectomy or an interval tonsillectomy should be performed. Here we describe the case of a 14-year-old boy with sore throat, trismus, and fever. He had bilateral tonsillar hypertrophy, convex arches, and soft palate edema. Computed tomography: bilateral tonsillar hypertrophy, with post-contrast enhancement, both with collection, edema with moderate pharyngeal stenosis. The patient was hospitalized for intravenous therapy and tonsillectomy with bilateral drainage resulting in a complete resolution of his condition and discharge at 48 hours. In the presence of a peritonsillar abscess, an unsuspected contralateral abscess should be considered. It should be diagnosed and managed adequately to prevent complications. Quinsy tonsillectomy could be safe and should be considered in patients who will undergo anesthesia for abscess drainage. The final decision should be made for each patient on an individual basis.


Subject(s)
Humans , Male , Adolescent , Pharyngitis , Peritonsillar Abscess/surgery , Peritonsillar Abscess/diagnosis , Tonsillectomy/methods , Edema , Hypertrophy/complications
14.
Arch. argent. pediatr ; 122(1): e202202978, feb. 2024. ilus, tab
Article in English, Spanish | LILACS, BINACIS | ID: biblio-1525840

ABSTRACT

El síndrome de Brown-Séquard es el conjunto de signos y síntomas causado por hemisección medular de diversos orígenes. Puede generarse por múltiples causas; las traumáticas son las más frecuentes. Las causas menos frecuentes son patología inflamatoria, isquémica, tumoral o infecciosa. Se presenta un niño de 12 años, con instauración aguda y progresiva de un síndrome de hemisección medular derecho, con parálisis hipo/arrefléctica homolateral y afectación de sensibilidad termoalgésica contralateral. En la resonancia magnética de médula espinal, se observó compromiso inflamatorio en hemimédula derecha a nivel de segunda y tercera vértebras torácicas. Con diagnóstico de mielitis transversa idiopática, inició tratamiento con corticoide intravenoso a altas dosis con evolución clínica favorable y restitución de las funciones neurológicas.


Brown-Séquard syndrome refers to a set of signs and symptoms caused by hemisection of the spinal cord from various sources. It may have multiple causes; traumatic injuries are the most frequent ones. The less common causes include inflammation, ischemia, tumors, or infections. This report is about a 12-year-old boy with an acute and progressive course of right hemisection of the spinal cord, with ipsilateral hypo/areflexic paralysis and contralateral loss of thermalgesic sensation. The MRI of the spinal cord showed inflammation in the right side of the spinal cord at the level of the second and third thoracic vertebrae. The patient was diagnosed with idiopathic transverse myelitis and was started on intravenous high-dose corticosteroids; he showed a favorable clinical course and recovered neurological functions.


Subject(s)
Humans , Male , Child , Spinal Cord Injuries/complications , Brown-Sequard Syndrome/diagnosis , Brown-Sequard Syndrome/etiology , Myelitis , Magnetic Resonance Imaging , Inflammation/complications
17.
Rev. bras. educ. méd ; 48(1): e017, 2024. tab
Article in Portuguese | LILACS-Express | LILACS | ID: biblio-1535563

ABSTRACT

Resumo Introdução: O uso de simulação realística em emergências pediátricas é particularmente valioso, pois permite o treinamento de habilidades técnicas, atitudinais e cognitivas, ajudando a garantir a segurança do paciente. Objetivo: Este estudo tem como objetivo descrever a percepção do aluno sobre o uso da Simulação Realista de Alta Fidelidade nos módulos de emergência pediátrica durante o internato de medicina. Métodos: Estudo observacional, descritivo, com abordagem quantitativa e qualitativa. Um questionário semiestruturado foi aplicado aos estudantes do sexto ano de medicina ao final dos módulos de internato pediátrico, com oito semanas de duração, de agosto a dezembro de 2020. Todos participaram de dois tipos de atividades sobre 14 temas: simulação de alta fidelidade (SRAF) e discussão estruturada de casos clínicos (DCC). Resultados: Dos 33 participantes, 29 responderam ao questionário. A média de idade foi de 24 ± 1,8 anos, sendo 58,6% do sexo feminino. Todos concordaram que a experiência com SRAF contribuiu para um desempenho mais seguro em emergências pediátricas, considerado ótimo por 76% e bom para os demais. A maioria achava que a associação de SRAF e DCC era o método ideal (96%). A análise de conteúdo das respostas sobre a SRAF destacou unidades temáticas em cinco categorias: aprendizagem significativa, contribuição para a formação profissional, habilidades, atitude/comportamento e qualidade da atividade. Conclusões: A reação dos estudantes ao uso da SRAF em emergências pediátricas foi muito positiva, e sua associação com a DCC foi considerada o método de ensino ideal. Conhecer as reações dos alunos ajuda os professores a planejarem suas atividades para melhorar o método de ensino-aprendizagem.


Abstract Introduction: The use of realistic simulation in pediatric emergencies is particularly valuable, as it allows the training of technical, attitudinal, and cognitive skills, helping to ensure patient safety. Objective: This study aims to describe the student's perception of using the High-Fidelity Realistic Simulation in the pediatric emergency modules during the internship. Methods: Observational, descriptive study with a quantitative and qualitative approach. A semi-structured questionnaire was applied to sixth-year medical students at the end of the pediatric internship modules, which lasted eight weeks, from August to December 2020. All of them participated in two types of activities on 14 topics: high-fidelity simulation (HFS) and structured discussion of clinical cases (SDCC). Results: Of the 33 participants, 29 answered the questionnaire. The mean age was 24 ± 1.8 years, and 58.6% were female. All agreed that the experience with HFS contributed to safer performance in pediatric emergencies, considered optimal by 76% and good for the remainder. Most thought the association of HFS and SDCC was the ideal method (96%). The content analysis of the responses on HFS highlighted thematic units in five categories: significant learning, contribution to professional training, skills, attitude/behavior, and quality of the activity. Conclusions: Students' reaction to using HFS in pediatric emergencies was very positive, and its association with SDCC was considered the ideal teaching method. Knowing the students' reactions helps teachers plan their activities to improve the teaching-learning method.

18.
São Paulo med. j ; 142(4): e2022370, 2024. tab
Article in English | LILACS-Express | LILACS | ID: biblio-1536906

ABSTRACT

ABSTRACT BACKGROUND: Hyperchloremia is often encountered due to the frequent administration of intravenous fluids in critically ill patients with conditions such as shock or hypotension in the pediatric intensive care unit, and high serum levels of chloride are associated with poor clinical outcomes. OBJECTIVES: This study aimed to determine the association between hyperchloremia and in-hospital mortality in pediatric patients with major trauma. DESIGN AND SETTING: This retrospective cohort study was conducted at a tertiary university hospital in Turkey. METHODS: Data were collected between March 2020 and April 2022. Patients aged 1 month to 18 years with major trauma who received intravenous fluids with a concentration > 0.9% sodium chloride were enrolled. Hyperchloremia was defined as a serum chloride level > 110 mmol/L. Clinical and laboratory data were compared between the survivors and nonsurvivors. RESULTS: The mortality rate was 23% (n = 20). The incidence of hyperchloremia was significantly higher in nonsurvivors than in survivors (P = 0.05). In multivariate logistic analysis, hyperchloremia at 48 h was found to be an independent risk factor for mortality in pediatric patients with major trauma. CONCLUSIONS: In pediatric patients with major trauma, hyperchloremia at 48-h postadmission was associated with 28-day mortality. This parameter might be a beneficial prognostic indicator.

19.
J. pediatr. (Rio J.) ; 100(1): 67-73, 2024. tab, graf
Article in English | LILACS-Express | LILACS | ID: biblio-1528956

ABSTRACT

Abstract Objective Kidney shortage for pediatric kidney transplantation (PKT) entails the need to use low-weight and age donors, despite the apprehension. The aim of this study was to analyze the pediatric deceased donor kidney transplantations (pDDKT) outcomes in the first year after the procedure, stratified by donor age. Method Retrospective cohort of pDDKTs carried out between January 2013, and January 2018, at a PKT reference hospital in Southern Brazil. Donors were divided into group 1 (≤ 6 years), and group 2 (> 6 years); the analysis of the outcomes was carried out in the same period. Results There were 143 pDDKTs; 51 (35.66%) in group 1; and 92 (64.34%) in group 2. In both groups there were 17 graft losses (11.8%), with vascular thrombosis as the main cause (group 1: 5; group 2: 4). Among the complications, renal artery stenosis (RAS) with indication for angioplasty and stenting was more frequent in group 1 (7.8%; group 2: 2.2%). The 1-year Renal Transplant Recipients' and graft survival did not show significant differences between the groups, (p= = 0.95). However, the Glomerular Filtration Rate analysis was higher in group 2, reaching, in the 12th month, 79.3 mL/min/1,73m2, compared to 69.7 mL/min/1,73m2 in group 1(p= = 0.033). Conclusions Small donors can be considered for pDDKTs, as long as there is an expert team to perform the transplantation.

20.
J. pediatr. (Rio J.) ; 100(1): 25-31, 2024. graf
Article in English | LILACS-Express | LILACS | ID: biblio-1528957

ABSTRACT

Abstract Objective In this systematic review (SR), the authors aimed to identify the possible impact of the social restriction imposed by the Coronavirus Disease-19 (COVID-19) pandemic on children/adolescents with Attention Deficit Hyperactivity Disorder (ADHD). Data sources This SR was registered on PROSPERO CRD42021255569. Eligible articles were selected from PubMed, Embase, and LILACS, according to the following characteristics: ADHD patients < 18 years old, exposed to the COVID-19 pandemic, and the outcomes, medications, relationships, sleep, media use, remote learning, and comorbidities such as depression/sadness, inattention, anxiety, and irritability/aggressiveness. Newcastle-Ottawa Scale (NOS) for cohort, cross-sectional and case-control studies was used to assess methodological quality and the risk of bias. Summary of findings Of the 222 articles identified, 27 were included, with information on 7,235 patients. Most studies (n = 22) were cross-sectional and received a mean NOS 4.63/10 followed by longitudinal (n = 4) with 3.75/8 points and case-control (n = 1), with 3/9 points. The pandemic affected patients' access to treatment, behavior, and sleep. Difficulties in remote learning and increased use of social media were described, as well as significant and positive changes in relationships with family and peers. Conclusion Although the studies were heterogeneous, they indicated that the pandemic-related issues experienced by patients with ADHD were mostly manifested affecting their behavior and sleep patterns.

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