RESUMEN
Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection is typically very mild and often asymptomatic in children. A complication is the rare multisystem inflammatory syndrome in children (MIS-C) associated with COVID-19, presenting 4-6 weeks after infection as high fever, organ dysfunction, and strongly elevated markers of inflammation. The pathogenesis is unclear but has overlapping features with Kawasaki disease suggestive of vasculitis and a likely autoimmune etiology. We apply systems-level analyses of blood immune cells, cytokines, and autoantibodies in healthy children, children with Kawasaki disease enrolled prior to COVID-19, children infected with SARS-CoV-2, and children presenting with MIS-C. We find that the inflammatory response in MIS-C differs from the cytokine storm of severe acute COVID-19, shares several features with Kawasaki disease, but also differs from this condition with respect to T cell subsets, interleukin (IL)-17A, and biomarkers associated with arterial damage. Finally, autoantibody profiling suggests multiple autoantibodies that could be involved in the pathogenesis of MIS-C.
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Infecciones por Coronavirus/patología , Neumonía Viral/patología , Síndrome de Respuesta Inflamatoria Sistémica/patología , Autoanticuerpos/sangre , Betacoronavirus/aislamiento & purificación , COVID-19 , Niño , Preescolar , Infecciones por Coronavirus/complicaciones , Infecciones por Coronavirus/virología , Citocinas/metabolismo , Femenino , Humanos , Inmunidad Humoral , Lactante , Masculino , Síndrome Mucocutáneo Linfonodular/complicaciones , Síndrome Mucocutáneo Linfonodular/inmunología , Síndrome Mucocutáneo Linfonodular/patología , Pandemias , Neumonía Viral/complicaciones , Neumonía Viral/virología , Análisis de Componente Principal , Proteoma/análisis , SARS-CoV-2 , Índice de Severidad de la Enfermedad , Síndrome de Respuesta Inflamatoria Sistémica/etiología , Síndrome de Respuesta Inflamatoria Sistémica/inmunología , Subgrupos de Linfocitos T/citología , Subgrupos de Linfocitos T/inmunología , Subgrupos de Linfocitos T/metabolismoRESUMEN
Despite progress, the molecular mechanisms underlying Kawasaki Disease (KD) and intravenous immunoglobulin's (IVIG) ability to mitigate the inflammatory process remain poorly understood. To characterize this condition, plasma proteomic profiles, flow cytometry, and gene expression of T cell subsets were investigated in longitudinal samples from KD patients and compared with two control groups. Systems-level analysis of samples in the acute phase revealed distinctive inflammatory features of KD, involving mainly Th-1 and Th-17 mediators, and unveiled a potential disease severity signature. APBB1IP demonstrated an association with coronary artery involvement (CAI) and was significantly higher in CAI+ compared to CAI- patients. Integrative analysis revealed a transient reduction in CD4+ EM T cells and comprehensive immune activation and exhaustion. Following treatment, Tregs at both frequency and gene expression levels revealed immune dynamics of recovery. Overall, our data provide insights into KD, which may offer valuable information on prognostic indicators and possible targets for novel treatments.
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In pediatric practice, POCUS (point-of-care ultrasound) has been mostly implemented to recognize lung conditions and pleural and pericardial effusions, but less to evaluate fluid depletion. The main aim of this review is to analyze the current literature on the assessment of dehydration in pediatric patients by using POCUS. The size of the inferior vena cava (IVC) and its change in diameter in response to respiration have been investigated as a tool to screen for hypovolemia. A dilated IVC with decreased collapsibility (< 50%) is a sign of increased right atrial pressure. On the contrary, a collapsed IVC may be indicative of hypovolemia. The IVC collapsibility index (cIVC) reflects the decrease in the diameter upon inspiration. Altogether the IVC diameter and collapsibility index can be easily determined, but their role in children has not been fully demonstrated, and an estimation of volume status solely by assessing the IVC should thus be interpreted with caution. The inferior vena cava/abdominal aorta (IVC/AO) ratio may be a suitable parameter to assess the volume status in pediatric patients even though there is a need to define age-based thresholds. A combination of vascular, lung, and cardiac POCUS could be a valuable supplementary tool in the assessment of dehydration in several clinical scenarios, enabling rapid identification of life-threatening primary etiologies and helping physicians avoid inappropriate therapeutic interventions. Conclusion: POCUS can provide important information in the assessment of intravascular fluid status in emergency scenarios, but measurements may be confounded by a number of other clinical variables. The inclusion of lung and cardiac views may assist in better understanding the patient's physiology and etiology regarding volume status. What is Known: ⢠In pediatric practice, POCUS (point-of-care ultrasound) has been mostly implemented to recognize lung conditions (like pneumonia and bronchiolitis) and pleural and pericardial effusions, but less to evaluate fluid depletion. ⢠The size of the IVC (inferior vena cava) and its change in diameter in response to respiration have been studied as a possible screening tool to assess the volume status, predict fluid responsiveness, and assess potential intolerance to fluid loading. What is New: ⢠The IVC diameter and collapsibility index can be easily assessed, but their role in predicting dehydration in pediatric age has not been fully demonstrated, and an estimation of volume status only by assessing the IVC should be interpreted carefully. ⢠The IVC /AO(inferior vena cava/abdominal aorta) ratio may be a suitable parameter to assess the volume status in pediatric patients even though there is a need to define age-based thresholds. A combination of vascular, lung, and cardiac POCUS can be a valuable supplementary tool in the assessment of intravascular volume in several clinical scenarios.
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Hipovolemia , Derrame Pericárdico , Humanos , Niño , Hipovolemia/diagnóstico , Deshidratación/diagnóstico , Deshidratación/etiología , Derrame Pericárdico/complicaciones , Estudios Prospectivos , Ultrasonografía , Vena Cava Inferior/diagnóstico por imagen , Vena Cava Inferior/fisiologíaRESUMEN
Coronavirus disease-19 (COVID-19) caused hospitalizations, severe disease, and deaths in any age, including in the youngest children. The aim of this multicenter national study is to characterize the clinical and the prognostic role of lung ultrasound (LU) in children with COVID-19. We enrolled children between 1 month and 18 years of age with severe acute respiratory syndrome coronavirus 2 (SARS-CoV2) infection who underwent a LU within 6 h from the first medical evaluation. A total of 213 children were enrolled, 51.6% were male, median age was 2 years and 5 months (interquartile range (IQR) 4 months -11 years and 4 months). One hundred and forty-eight (69.4%) children were admitted in hospital, 9 (6.1%) in pediatric intensive care unit. We found an inverse correlation between the lung ultrasound score (LUS) and the oxygen saturation at the first clinical evaluation (r = -0.16; p = 0.019). Moreover, LUS was significantly higher in patients requiring oxygen supplementation (8 (IQR 3-19) vs 2 (IQR 0-4); p = 0.001). Among LU pathological findings, irregular pleural lines, subpleural consolidations, and pleural effusions were significantly more frequent in patients needing oxygen supplementation (p = 0.007, p = 0.006, and p = 0.001, respectively). Conclusion: This multicenter study showed that LU in children with COVID-19 can highlight pleural line irregularities, vertical artifacts, and subpleural consolidation. Notably, children with higher LUS have a higher risk of hospitalization and need for oxygen supplementation, supporting LU as a valid and safe point-of-care first level tool for the clinical evaluation of children with COVID-19. What is Known: ⢠Few children infected with SARS-CoV-2 develop a severe disease and need oxygen therapy. ⢠Lung ultrasound can easily detect low respiratory tract infection during SARS-CoV-2. What is New: ⢠Children with higher lung ultrasound score have a higher risk of need for oxygen supplementation. ⢠Irregular pleural line, sub-pleural consolidations and pleural effusions were significantly more frequent in patients needing oxygen supplementation.
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COVID-19 , Pulmón , Ultrasonografía , Humanos , COVID-19/diagnóstico por imagen , COVID-19/terapia , Masculino , Niño , Femenino , Preescolar , Ultrasonografía/métodos , Estudios Prospectivos , Pulmón/diagnóstico por imagen , Lactante , Adolescente , SARS-CoV-2 , PronósticoRESUMEN
OBJECTIVES: Blood level of pancreatic stone protein (PSP) is a promising biomarker of sepsis both in adults and children. The aim of our study was to investigate the diagnostic accuracy of PSP in children with suspected sepsis and to compare diagnostic performance with other sepsis biomarkers approved for clinical use, that is, procalcitonin (PCT) and C-reactive protein (CRP). DESIGN: Prospective study. SETTING: PICU and pediatric emergency department. INTERVENTION: Blood levels of PSP were measured using a nanofluidic point-of-care immunoassay (abioSCOPE, Abionic SA, Switzerland) within 24 hours of admission. MEASUREMENTS AND MAIN RESULTS: We studied 99 children aged between older than 1 month and younger than 18 years with signs and symptoms of systemic inflammatory response syndrome (irrespective of associated organ dysfunction). The prevalence of sepsis was 35 of 99 (35.4%). Patients with sepsis had higher PSP levels (p < 0.001) than patients with systemic inflammation of noninfectious cause. In this analysis, the optimal cutoff for the diagnosis of sepsis using PSP was 123 ng/mL, which resulted in a sensitivity of 0.63 (95% CI, 0.43-0.80), specificity of 0.89 (95% CI, 0.77-0.95). The PSP test area under the receiver operating characteristic curve (AUROC) was 0.82 (95% CI, 0.73-0.91) and, by comparison, procalcitonin and CRP AUROC were 0.70 (95% CI, 0.58-0.82) and 0.72 (95% CI, 0.60-0.84), respectively. Overall, the pretest to posttest probability of sepsis with a positive test changed from 0.35 to 0.73. CONCLUSIONS: In this single-center prospective pediatric cohort, admitted to the high intensive care and to the PICU, our findings suggested the potential use of PSP as a sepsis biomarker. However, because of the clinical diagnostic uncertainty with a positive result, further investigation is needed particularly in combination with other biomarkers.
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Individuals with Down syndrome (DS) are at increased risk for being overweight/obese, but the associated cardiometabolic risk (CR) is not clear. Cross-sectional anthropometric and clinical laboratory data from a multi-site, international cohort of individuals with DS were analyzed to determine cardiometabolic risk by reporting observed distributions of cardiometabolic biomarkers in overweight/obese individuals with DS throughout the lifespan. Descriptive statistics and regression analyses by age categories determined the distributive percentiles for cardiometabolic biomarkers and tested for adiposity as a predictor of CR. Across seven DS clinics, data were collected on 240 patients between the ages of 3 and 63 years, with one quarter overweight and three quarters obese among children and nearly all adults being obese. In children and adults, most cardiometabolic biomarker profiles showed distributive values within normal ranges. Blood lipids were positively associated with body mass index (BMI) in children (high density lipid-cholesterol, p = 0.01; low density lipid-cholesterol, p = 0.02). Levels of hs-CRP were elevated in both children and adults, with BMI positively associated with hs-CRP in adults with DS (p = 0.04). Liver enzyme values were positively associated with BMI in children and adults. The data suggest that in contrast to the general population, in individuals with Down syndrome, being overweight and obese does not appear to confer a significantly increased risk for cardiometabolic disease by biomarker profile. Individuals with DS who are overweight/obese appear to have unique cardiometabolic profiles unrelated to adiposity, notable for increased hs-CRP and normal HA1c levels.
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Enfermedades Cardiovasculares , Síndrome de Down , Enfermedades Metabólicas , Humanos , Niño , Adulto , Preescolar , Adolescente , Adulto Joven , Persona de Mediana Edad , Sobrepeso/complicaciones , Sobrepeso/epidemiología , Proteína C-Reactiva/análisis , Síndrome de Down/complicaciones , Síndrome de Down/epidemiología , Estudios Transversales , Factores de Riesgo , Obesidad/complicaciones , Índice de Masa Corporal , Biomarcadores , Lípidos , Enfermedades Cardiovasculares/epidemiología , Enfermedades Cardiovasculares/etiologíaRESUMEN
BACKGROUND: Preschool age (i.e. children under six years of age) represents a red flag for requiring neuroimaging to exclude secondary potentially urgent intracranial conditions (PUIC) in patients with acute headache. We investigated the clinical characteristics of preschoolers with headache to identify the features associated with a greater risk of secondary "dangerous" headache. METHODS: We performed a multicenter exploratory retrospective study in Italy from January 2017 to December 2018. Preschoolers with new-onset non-traumatic headache admitted to emergency department were included and were subsequently divided into two groups: hospitalized and discharged. Among hospitalized patients, we investigated the characteristics linked to potentially urgent intracranial conditions. RESULTS: We included 1455 preschoolers with acute headache. Vomiting, ocular motility disorders, ataxia, presence of neurological symptoms and signs, torticollis and nocturnal awakening were significantly associated to hospitalization. Among the 95 hospitalized patients, 34 (2.3%) had potentially urgent intracranial conditions and more frequently they had neurological symptoms and signs, papilledema, ataxia, cranial nerves paralysis, nocturnal awakening and vomiting. Nevertheless, on multivariable logistic regression analysis, we found that only ataxia and vomiting were associated with potentially urgent intracranial conditions. CONCLUSION: Our study identified clinical features that should be carefully evaluated in the emergency department in order to obtain a prompt diagnosis and treatment of potentially urgent intracranial conditions. The prevalence of potentially urgent intracranial conditions was low in the emergency department, which may suggest that age under six should not be considered an important risk factor for malignant causes as previously thought.
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Servicio de Urgencia en Hospital , Cefalea , Preescolar , Humanos , Niño , Estudios Retrospectivos , Cefalea/etiología , Vómitos/epidemiología , Vómitos/complicaciones , Ataxia/complicacionesRESUMEN
BACKGROUND: The purpose of this study is to evaluate the association between SARS-CoV-2 viral load in respiratory secretions of infected children and signs/symptoms of COVID-19. METHODS: We reported the clinical characteristics of SARS-CoV-2-infected children during the study period. We compared viral load for several clinical variables, performed a predictive linear regression analysis to identify signs and symptoms significantly associated with viral load, and searched for discriminant viral load thresholds for symptomatic versus asymptomatic infections based on receiver-operating characteristics. RESULTS: A total of 570 patients were included. The median age was 4.75 years. Comparison of CT values by dichotomous variable showed higher viral loads in children with fever, respiratory symptoms, and previous exposure to SARS-CoV-2. The linear regression analysis confirmed a significant relationship between the CT value with these variables and with age, other symptoms, and asymptomaticity. In particular, infants with fever and SARS-CoV-2 exposure had higher viral loads. No viral load cut-offs were found to distinguish symptomatic from asymptomatic patients. CONCLUSION: Our study shows that fever, SARS-CoV-2 exposure, and respiratory symptoms are associated with higher viral load in children, especially infants, while age, presence of nonrespiratory symptoms, or absence of any symptoms are associated with lower viral load. IMPACT: Key message: the clinical variables that best predict viral load in infected children are history of previous exposure to a SARS-CoV-2-infected person and presence of fever and respiratory symptoms (higher viral load). Added value to the current literature: this is the first article to prove this point. IMPACT: SARS-CoV-2 viral load should not be used as a measure of clinical severity of COVID-19 in the pediatric population; however, lower viral load appears to be associated with asymptomatic COVID-19 in older children.
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COVID-19 , SARS-CoV-2 , Lactante , Humanos , Niño , Preescolar , COVID-19/epidemiología , Carga Viral , Curva ROCRESUMEN
Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infection among infants and young children, resulting in annual epidemics worldwide. Since the beginning of the COVID-19 pandemic, non-pharmacological interventions were applied, interfering with the circulation of most respiratory viruses, including RSV. The aim of this study is to analyze the RSV infection trend among hospitalized infants during the actual epidemic season (2022-2023) in comparison with the last pre-pandemic season (2018-2019), in order to outline whether significant differences emerge due to COVID-19 pandemia. We retrospectively reviewed medical data on infants hospitalized at the Bambino Gesù Children's Hospital with diagnosis of bronchiolitis in the current epidemic season and in the last pre-pandemic season, 2018-2019. RSV remains the main etiological agent of bronchiolitis in terms of frequency and severity of infections in the ongoing epidemic season. The first RSV case of the 2022-2023 season was detected at week 42 vs week 47 in the 2018-2019 season. The length of epidemic season was of 17 weeks in 2022-2023 vs 18 weeks in 2018-2019. Comparing the two seasons, age at admission was significantly higher in the current season (median age 2022-2023 65 days vs median age 2018-2019 58 days), but the disease severity was similar. Conclusions: The 2022-2023 bronchiolitis season in Italy started earlier than the usual pre-pandemic seasons but seasonality pattern may be going back to the pre-pandemic one. This season was not more severe than the previous ones. The impact of RSV disease on health care systems and costs remains a critical issue. What is Known: ⢠RSV is one of the major leading causes of hospitalization among children aged less than 3 months. SarsCOV2 pandemic interfered with the seasonal circulation of most respiratory viruses, Including RSV. What is New: ⢠The 2022-2023 bronchiolitis season in Italy started and peaked earlier than the usual pre-pandemic seasons but seasonality pattern may be realigning to the pre-pandemic one. The impact of RSV disease on health care systems and costs is concerning.
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Bronquiolitis , Infecciones por Virus Sincitial Respiratorio , Virus Sincitial Respiratorio Humano , Lactante , Niño , Humanos , Preescolar , Pandemias , Estudios Retrospectivos , Salud Pública , ARN Viral , Bronquiolitis/epidemiología , Infecciones por Virus Sincitial Respiratorio/epidemiología , Infecciones por Virus Sincitial Respiratorio/terapia , Infecciones por Virus Sincitial Respiratorio/diagnóstico , Hospitalización , Estaciones del AñoRESUMEN
BACKGROUND: Down syndrome (DS) or Trisomy 21 is the most common chromosomal disease and is characterized by possible heart defects, cognitive impairment and visual disorders. CASE PRESENTATION: We describe for the first time a 17-year-old Caucasian girl suffering from Down syndrome associated with vernal keratoconjunctivitis (VKC), a rare disorder of the anterior segment of the eye, characterized by intense photophobia, redness, watering eyes and itching due to an inflammatory-allergic reaction of the cornea and conjunctiva. On slit-lamp examination, the girl showed conjunctival hyperemia, papillary hypertrophy, giant papillae and corneal leukoma in right eye as a result of a previous corneal ulcer. A successful topical immunosuppressant therapy with cyclosporin 1% was started. CONCLUSION: So far, to our knowledge, this is the first description of VKC in a patient with DS. Finding an inflammatory-allergic disease such as VKC in DS is unusual but it must be taken into account because keratoconus, one of the most frequent eye pathologies in DS, can be secondary to an unrecognized VKC.
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Conjuntivitis Alérgica , Síndrome de Down , Femenino , Humanos , Adolescente , Conjuntivitis Alérgica/complicaciones , Conjuntivitis Alérgica/diagnóstico , Síndrome de Down/complicaciones , Síndrome de Down/patología , Conjuntiva/patología , Ciclosporina/uso terapéutico , Córnea/patología , InflamaciónRESUMEN
Children are prone to bloodstream infections (BSIs), the rapid and accurate diagnosis of which is an unmet clinical need. The T2MR technology is a direct molecular assay for identification of BSI pathogens, which can help to overcome the limits of blood culture (BC) such as diagnostic accuracy, blood volumes required, and turnaround time. We analyzed results obtained with the T2Bacteria (648) and T2Candida (106) panels in pediatric patients of the Bambino Gesù Children's Hospital between May 2018 and September 2020 in order to evaluate the performance of the T2Dx instrument with respect to BC. T2Bacteria and T2Candida panels showed 84.2% and 100% sensitivity with 85.9% and 94.1% specificity, respectively. The sensitivity and specificity of the T2Bacteria panel increased to 94.9% and 98.7%, respectively, when BC was negative but other laboratory data supported the molecular result. T2Bacteria sensitivity was 100% with blood volumes <2 mL in neonates and infants. T2Bacteria and T2Candida provided definitive microorganism identification in a mean time of 4.4 and 3.7 h, respectively, versus 65.7 and 125.5 h for BCs (P < 0.001). T2 panels rapidly and accurately enable a diagnosis of a pediatric BSI, even in children under 1 year of age and for very small blood volumes. These findings support their clinical use in life-threatening pediatric infections, where the time to diagnosis is of utmost importance, in order to improve survival and minimize the long-term sequalae of sepsis. The T2 technology could be further developed to include more bacteria and fungi species that are involved in the etiology of sepsis.
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Micosis , Sepsis , Recién Nacido , Humanos , Niño , Cultivo de Sangre/métodos , Espectroscopía de Resonancia Magnética/métodos , Bacterias , Sepsis/diagnóstico , TecnologíaRESUMEN
BACKGROUND: The objective of this study is to test how certain signs and symptoms related to COVID-19 in children predict the positivity or negativity of the SARS-CoV-2 nasopharyngeal swab in children. METHODS: We review the data of children who were tested for SARS-CoV-2 for a suspected infection. We compared the clinical characteristics of the subjects who tested positive and negative, including the sensibility, positive and negative predictive value of different combination of signs and symptoms. RESULTS: Of all the suspected infected, 2596 tested negative (96.2%) and 103 tested positive (3.8%). The median age was 7.0 and 5.3 years for the positive and negative ones, respectively. The female to male ratio was ~1:1.3. Fever and respiratory symptoms were mostly reported. Most positive children had a prior exposure to SARS-CoV-2-infected subjects (59.2%). A total of 99.3% of patients without fever nor exposure to the virus proved negative to the SARS-CoV-2 test. CONCLUSIONS: Our study suggests that a child without fever or contact with infected subjects is SARS-CoV-2 negative. If this were to be confirmed, many resources would be spared, with improved care of both COVID-19 and not COVID-19-affected children. IMPACT: Key message: lack of fever and exposure to SARS-CoV-2-infected people highly predicts a negative results of the SARS-CoV-2 nasopharyngeal swab in the paediatric population. Added value to the current literature: this is the first article to prove this point. IMPACT: reduction of emergency department accesses of children with suspected SARS-CoV-2 infection; increased outpatient management of children with cough or other common respiratory symptoms of infancy; sparing of many human and material health resources.
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COVID-19 , SARS-CoV-2 , COVID-19/diagnóstico , Niño , Tos/diagnóstico , Servicio de Urgencia en Hospital , Femenino , Fiebre/diagnóstico , Humanos , MasculinoRESUMEN
AIM: Emergency room admissions have decreased globally during the COVID-19 pandemic, particularly for respiratory diseases. We evaluated hospital admissions for respiratory diseases in the first year of the Italian pandemic and compared them with the corresponding period in 2016-2017. METHODS: The study was carried out at the Sapienza University in Rome, Italy, and covered 9 March to 28 February 2020-2021 and 2016-2017. We tested 85 hospitalised children who were negative for the virus that causes COVID-19 in 2020-2021 and compared them with 476 hospitalised children from 2016-2017, as we had also tested nasal washing samples for 14 respiratory viruses during that period. RESULTS: Hospitalisations for acute respiratory tract infections were 82.2% lower in 2020-2021 than 2016-2017. The respiratory syncytial virus (RSV) and several other viruses were detected less frequently during the pandemic. An extraordinary finding was that rhinoviruses remained seasonal. In 2020-2021, we detected a virus in 54.1% of the hospitalised children: rhinoviruses in 41, RSV in 4 and other viruses in 1. This was significantly lower than the 71.6% in 2016-2017: RSV in 130, rhinoviruses in 128 and other viruses in 83. CONCLUSION: Pandemic measures dramatically reduced childhood respiratory infections, particularly RSV, but were less effective at reducing rhinoviruses.
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COVID-19 , Infecciones por Virus Sincitial Respiratorio , Virus Sincitial Respiratorio Humano , Infecciones del Sistema Respiratorio , Virus , COVID-19/epidemiología , COVID-19/prevención & control , Niño , Niño Hospitalizado , Control de Enfermedades Transmisibles , Humanos , Lactante , Pandemias , Infecciones por Virus Sincitial Respiratorio/epidemiología , Infecciones por Virus Sincitial Respiratorio/prevención & control , Infecciones del Sistema Respiratorio/epidemiología , Infecciones del Sistema Respiratorio/prevención & control , RhinovirusRESUMEN
INTRODUCTION: Intellectual disability, accelerated aging, and early-onset Alzheimer-like neurodegeneration are key brain pathological features of Down syndrome (DS). Although growing research aims at the identification of molecular pathways underlying the aging trajectory of DS population, data on infants and adolescents with DS are missing. METHODS: Neuronal-derived extracellular vesicles (nEVs) were isolated form healthy donors (HDs, n = 17) and DS children (n = 18) from 2 to 17 years of age and nEV content was interrogated for markers of insulin/mTOR pathways. RESULTS: nEVs isolated from DS children were characterized by a significant increase in pIRS1Ser636 , a marker of insulin resistance, and the hyperactivation of the Akt/mTOR/p70S6K axis downstream from IRS1, likely driven by the higher inhibition of Phosphatase and tensin homolog (PTEN). High levels of pGSK3ßSer9 were also found. CONCLUSIONS: The alteration of the insulin-signaling/mTOR pathways represents an early event in DS brain and likely contributes to the cerebral dysfunction and intellectual disability observed in this unique population.
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Enfermedad de Alzheimer , Síndrome de Down , Vesículas Extracelulares , Discapacidad Intelectual , Adolescente , Enfermedad de Alzheimer/patología , Niño , Síndrome de Down/metabolismo , Vesículas Extracelulares/metabolismo , Humanos , Lactante , Insulina , Serina-Treonina Quinasas TOR/metabolismoRESUMEN
PURPOSE: Since the beginning of COVID-19 pandemic, social distancing and home confinement had a significant impact on children, especially on those with eating disorders (ED). The primary objective of this retrospective study was to describe and analyze the demographic and clinical profiles of children presenting with ED during the COVID-19 pandemic. METHODS: We conducted a retrospective review of clinical charts of patients with ED younger than 18 years who accessed the emergency department of the Bambino Gesù Children's Hospital, Rome, between March 2019 and March 2021. Of these, we reported and compared the demographic, clinical and laboratory data before and after the COVID-19 pandemic and looked for predictors of ED severity. RESULTS: A total of 211 admissions for ED were recorded. The patients, mostly females (86.3%) were on average 14.1 years old. The mean weight loss on admission was 11 kg. Bradycardia was observed in 31.3% of the study sample. 16.6% of patients had an associated psychiatric disorder and 60.2% required psychotropic drugs. 68.7% of the patients required hospitalization. Respectively, 96 and 115 patients were admitted before and during the COVID-19 pandemic. The latter were hospitalized more (78.3 vs 57.3%; p = 0.001), yet for less time (19 vs 26 days; p = 0.004), had a higher mean serum creatinine (0.68 vs 0.47; p < 0.001) and were more frequently diagnosed with an associated psychiatric disorder (23.5 vs 8.3%; p = 0.003). CONCLUSION: Our study shows a significant increase of hospitalizations of children with ED during the COVID-19 pandemic, along with a shorter length of stay, more psychiatric comorbidities, and some distinctive features at the laboratory work-up, such as an increase of serum creatinine and/or a reduction of serum albumin. LEVEL OF EVIDENCE: III, evidence obtained from well-designed cohort or case-control analytic studies.
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COVID-19 , Trastornos de Alimentación y de la Ingestión de Alimentos , Adolescente , Niño , Creatinina , Deshidratación , Servicio de Urgencia en Hospital , Trastornos de Alimentación y de la Ingestión de Alimentos/epidemiología , Femenino , Hospitalización , Humanos , Masculino , Pandemias , Estudios Retrospectivos , Albúmina SéricaRESUMEN
PURPOSE: Anorexia nervosa (AN) is the most frequent eating disorder (ED), whose cardiac complications may have life-threatening consequences for both the physical and psychological health of affected children. In this study, we reported and analysed the echocardiographic anomalies found in pediatric patients diagnosed with AN. METHODS: We reported the demographic and clinical characteristics of children aged 8 to 18 years, who were diagnosed with AN and underwent a complete cardiological evaluation at the Emergency Department of the Bambino Gesù Children's Hospital, IRCCS, Rome between the 1st January 2021 and the 30th June 2021. Furthermore, we compared the patients according to the presence of pericardial effusion and a BMI (body mass index) cut-off 14.5 kg/m2. RESULTS: Forty-nine patients were included in the study. The mean age was 15.1 years. Most patients were female (89.8%). The mean length of hospitalization was 18 days. The mean BMI at admission was 14.8 kg/m2, with a median weight loss of 9 kg in the last year. Eleven patients (22.4%) presented with cardiovascular signs or symptoms at admission. Most patients had pericardial effusion on heart ultrasound, with a mean thickness of 6 mm (SD ± 4). The LV (left ventricle) thickness over age was significantly higher in patients with pericardial effusion, with a Z score of -2.0 vs -1.4 (p = 0.014). The administration of psychiatric drugs was significantly more frequent in patients with a lower BMI (37.5% vs 12%, p = 0.038). CONCLUSION: Our study suggests that a non-urgent baseline echocardiographic evaluation with focus on left-ventricular wall thickness and mass in children with anorexia nervosa is advisable. LEVEL III: Evidence obtained from cohort or case-control analytic studies.
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Anorexia Nerviosa , COVID-19 , Derrame Pericárdico , Humanos , Femenino , Niño , Adolescente , Masculino , Anorexia Nerviosa/complicaciones , Derrame Pericárdico/diagnóstico por imagen , Derrame Pericárdico/complicaciones , Pandemias , COVID-19/complicaciones , Hospitalización , Ecocardiografía/efectos adversos , Servicio de Urgencia en HospitalRESUMEN
BACKGROUND: The role played by nurses in caring for children in pediatricians' officies in the community is crucial to ensure integrated care. In Italy, pediatricians are responsible for the health of children aged 0-14 years living in the community. This study aimed to describe Italian primary care pediatricians' opinions about the usefulness of several nursing activities that pediatric nurses could perform in pediatricians' offices. METHODS: An online survey with pediatricians working in primary care in Italy was conducted between April-December 2018. A 40-item questionnaire was used to assess four types of nursing activities: clinical care, healthcare education, disease prevention, and organizational activities. The answers ranged from 1 (not useful at all) to 6 (very useful). Moreover, three open-ended questions completed the questionnaire. RESULTS: Overall, 707 pediatricians completed the online survey. Participants were mainly female (63%), with a mean age of 57.74 (SD = 6.42). The presence of a pediatric nurse within the pediatrician's office was considered very useful, especially for healthcare education (Mean 4.90; SD 1.12) and disease prevention (Mean 4.82; SD 1.11). Multivariate analysis confirmed that pediatricians 'with less working experience', 'having their office in a small town', and 'collaborating with a secretary and other workers in the office' rated the nurse's activities significantly more useful. CONCLUSIONS: A pediatric nurse in the pediatrician's office can significantly contribute to many activities for children and their families in the community. These activities include clinical care, healthcare education, disease prevention, and the organizational processes of the office. Synergic professional activity between pediatricians and pediatric nurses could ensure higher health care standards in the primary care setting.
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Enfermeras Pediátricas , Pediatras , Niño , Atención a la Salud , Femenino , Humanos , Atención Primaria de Salud , Encuestas y CuestionariosRESUMEN
Morbidity and mortality in Down syndrome (DS) are mainly related to congenital heart defects (CHDs). While CHDs with high prevalence in DS (typical CHDs), such as endocardial cushion defects, have been extensively described, little is known about the impact of less common CHDs (atypical CHDs), such as aortic coarctation and univentricular hearts. In our single-center study, we analyzed, in observational, retrospective manner, data regarding cardiac features, surgical management, and outcomes of a cohort of DS patients. Literature review was performed to investigate previously reported studies on atypical CHDs in DS. Patients with CHDs were subclassified as having typical or atypical CHDs. Statistical analysis was performed for comparison between the groups. The study population encompassed 859 DS patients, 72.2% with CHDs, of which 4.7% were atypical. Statistical analysis showed a significant excess in multiple surgeries, all-cause mortality and cardiac mortality in patients with atypical CHDs (p = .0067, p = .0038, p = .0001, respectively). According to the Kaplan-Meier method, survival at 10 and 40 years was significantly higher in typical CHDs (99 and 98% vs. 91 and 84%, log rank <0.05). Among atypical CHDs, it seems that particularly multiple complex defects in univentricular physiology associate with a worse outcome. This may be due to the surgical difficulty in managing univentricular hearts with multiple defects concurring to the clinical picture or to the severity of associated defects themselves. Further studies need to address this specific issue, also considering the higher pulmonary pressures, infective complications, and potential comorbidities in DS patients.
Asunto(s)
Síndrome de Down/mortalidad , Defectos de la Almohadilla Endocárdica/mortalidad , Cardiopatías Congénitas/mortalidad , Defectos del Tabique Interatrial/mortalidad , Coartación Aórtica , Niño , Preescolar , Síndrome de Down/complicaciones , Síndrome de Down/patología , Defectos de la Almohadilla Endocárdica/complicaciones , Defectos de la Almohadilla Endocárdica/patología , Femenino , Cardiopatías Congénitas/complicaciones , Cardiopatías Congénitas/patología , Defectos del Tabique Interatrial/complicaciones , Defectos del Tabique Interatrial/patología , Humanos , Masculino , Morbilidad , Estudios Retrospectivos , Factores de RiesgoRESUMEN
BACKGROUND AND AIMS: We previously demonstrated that children with Down syndrome (DS) exhibited a greater risk of steatosis than the general pediatric population. This trend was independent of obese phenotype, thus suggesting a role of genetic predisposition. Therefore, we investigated the prevalence of non-alcoholic fatty liver disease (NAFLD) and metabolic syndrome (MetS) in function of genetic susceptibility and adipocytokine levels in children with DS. METHODS AND RESULTS: A total of 84 Caucasian children with DS (age range 5-17 years), were included in this study. For all children, we collected data on anthropometric and biochemical parameters, and liver ultrasound (US). We also measured adipocytokines circulating levels and specific polymorphisms closed to NAFLD. We found a prevalence of 64.3% of liver steatosis at US, with a severe steatosis of about 4% in children with DS. The presence of steatosis in children with DS was associated with the presence of patatin-like phospholipase domain-containing 3 (PNPLA3) rs738409 variant, which also correlated with interleukin (IL)-6 levels. Moreover, we found that the 52.4% had a waist circumference > 90th percentile, 21.4% were hypertensive, 7.14% had hyperglycemia, 9.5% had hypertriglyceridemia, and 17.9% showed high-density lipoprotein cholesterol ≤ 40 mg/dl. Finally, the IL-6 and adiponectin levels correlated with steatosis, and several adipocytokines correlated with single MetS traits in children with DS. CONCLUSION: The present study explores for the first time potential pathomechanisms connecting pediatric NAFLD and MetS in DS. We found that the PNPLA3 variant is associated with steatosis, but not with MetS, in children with DS.
Asunto(s)
Síndrome de Down/genética , Lipasa/genética , Proteínas de la Membrana/genética , Síndrome Metabólico/genética , Enfermedad del Hígado Graso no Alcohólico/genética , Polimorfismo de Nucleótido Simple , Adiponectina/sangre , Adolescente , Factores de Edad , Biomarcadores/sangre , Glucemia/metabolismo , Niño , Preescolar , Síndrome de Down/sangre , Síndrome de Down/diagnóstico , Síndrome de Down/epidemiología , Femenino , Predisposición Genética a la Enfermedad , Humanos , Interleucina-6/sangre , Lípidos/sangre , Masculino , Síndrome Metabólico/sangre , Síndrome Metabólico/diagnóstico , Síndrome Metabólico/epidemiología , Enfermedad del Hígado Graso no Alcohólico/sangre , Enfermedad del Hígado Graso no Alcohólico/diagnóstico , Enfermedad del Hígado Graso no Alcohólico/epidemiología , Fenotipo , Prevalencia , Medición de Riesgo , Factores de Riesgo , Ciudad de Roma/epidemiologíaRESUMEN
Data on features of severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) in children and adolescents are scarce. We report preliminary results of an Italian multicentre study comprising 168 laboratory-confirmed paediatric cases (median: 2.3 years, range: 1 day-17.7 years, 55.9% males), of which 67.9% were hospitalised and 19.6% had comorbidities. Fever was the most common symptom, gastrointestinal manifestations were frequent; two children required intensive care, five had seizures, 49 received experimental treatments and all recovered.