Frontiers in Pediatrics最新文献

Background: C3 Glomerulopathy (C3G) is a complement-mediated disease, with predominant C3 deposits, where pathogenic genetic variants in complement system components and circulating autoantibodies result in loss of control of the alternative pathway, have been described. A high incidence of disease recurrence including graft failure has been reported after kidney transplantation (KTx). Currently treatment modalities for preventing and treating post KTx C3G recurrence (plasma exchange, rituximab and eculizumab) in adults have yielded inconsistent results. Data on post KTx C3G recurrence in childhood-onset C3G is still unknown.

Methods: A comprehensive case study of patients diagnosed with C3G as children or adolescents, who underwent KTx between the years 2015-2023. Data collected included complement workup, treatment modalities, and outcomes.

Results: 19 patients with C3G were identified during the study period. Five patients developed ESRD and received a kidney transplant. C3G recurrence was diagnosed post KTx in 100% of patients. Graft function improved in 3 of these patients (two with anti-factor H antibodies) after eculizumab treatment, one patient reached graft failure 9 months after transplantation despite eculizumab, recieved a second successful transplantation with pre-emptive eculizumab treatment and one patient showed histologic signs of disease recurrence without clinical signs.

Conclusions: C3G recurrence after KTx in patients diagnosed as children or adolescents may be higher than previously described. Treatment with eculizumab is beneficial in some patients. New treatments are needed for improving post-transplant outcome in patients with C3G.

Background: Retardation among children is a persistent global health concern. Vitamin deficiency in childhood may contribute to growth retardation; however, its causal effects are not fully understood.

Objective: Here, we aimed to explore the prediction values of fat-soluble vitamin levels on GR in children aged 1-6 years.

Methods: 614 children aged from 1 to 6 years at Nantong Maternal and Child Care Health Hospital between January 2021 and December 2022 in this retrospective observational study participated in the assessment of developmental status and blood detection of vitamin from peripheral blood (PB). The relationship between vitamin levels and GR was analyzed by Multivariable logistic regression analysis.

Results: Developmental assessment results showed that 132 cases from 614 with growth retardation (21.50%). Statistical analysis showed children with GR were more likely to be males (59.45% vs. 40.55%, p = 0.191). The age of children with GR was significantly higher than those without GR (p < 0.01). Importantly, the levels of various fat-soluble vitamins in GR individuals were significantly lower than those in normal individuals. ROC analysis showed that vitamin E, vitamin A and 25(OH) D₃ were less effective in predicting GR model (AUC: 0.87, 0.74, and 0.65,). However, the combination of vitamin E, vitamin A and 25(OH)D₃ with age was effective in predicting GR. (AUC: 0.84, 0.77, 0.75).

Conclusion: The combination of 25(OH)D3, Vitamin E, Vitamin A with age may have good predictive performance for children GR aged 1-6 years.

Background: Hypotension is a common entity in the neonatal intensive care unit (NICU) and is reported in 24%-50% of preterm infants with birth weight less than 1,500 g. Rapid diagnosis and aggressive management is crucial to reduce its detrimental effects on end-organs especially the brain. Physicians often rely on blood pressure alone as a reliable indicator of tissue perfusion, but variations exist in the definition of this crucial parameter. There are also practice variations in the use of diagnostic tools and management modalities among physicians.

Methodology: A physician-based cross-sectional survey of management practices of hypotension in preterm neonates in Indian NICUs was conducted using an online survey tool. The questionnaire addressed diagnostic criteria used, utility of echocardiography for the assessment of hypotension, and management strategies used, such as volume expansion, inotropes and steroids.

Results: Three hundred and twenty physicians, working predominantly in Level III NICUs, responded to the survey. The practice of delayed cord clamping was followed in the units of 78% respondents. Only 44% respondents had an institutional written protocol for the management of hypotension. The criteria for the diagnosis of hypotension varied, with 52% using mean blood pressure (BP) less than gestational age as the criteria. Capillary refill time, blood pressure and heart rate were the most common clinical criteria used. 85% respondents used echocardiography in the NICU, but only 73% utilised it for assessment of a hypotensive neonate. Physicians preferred a 'volume-inotrope-echo-steroid' strategy, with 85% respondents using volume expansion. Dopamine was the preferred first line inotrope, followed by norepinephrine and low-dose epinephrine.

Conclusion: This survey reflects significant variations in practice amongst neonatal physicians in India. Bedside targeted echocardiography needs to be better utilised as a vital tool to determine the pathophysiology of disease and hemodynamic monitoring in the management of hypotension in neonates. While further research is needed on outcome-oriented objectives, awareness and dissemination of already existing guidelines would be useful to standardize clinical practice.

Introduction: The objective of this review is to know the existing scientific evidence about the effects of mechanical ventilation (MV) on neurological development in low-birth-weight premature pediatric patients after 12 months of life, taking as background the direct impact that ventilation has on the central nervous system in the newborn during the first days of life.

Methods: A systematic search was carried out between 2003 and 2024 in the data bases of: PUBMED, Cochrane Library Plus, PEDro, CINAHL, and SciELO, and two investigators scored the articles according to the Newcastle-Ottawa Assessment scale.

Results: Were found 129 non-replicated articles, and 10 cohort and cross-sectional studies were selected that performed an assessment of neurodevelopment in the three spheres after 12 months of life in corrected age of premature infants exposed to ventilator support and related the two variables independently.

Conclusions: Mechanical ventilation is an independent neurodevelopmental risk factor in low-birth-weight preterm infants. The time of exposure and the type of ventilation were the variables with the most scientific evidence.

Systematic review registration: https://www.crd.york.ac.uk/, Identifier CRD42023446797.

Immunoglobulin A vasculitis (IgAV), previously known as Henoch-Schönlein purpura, is the most common form of systemic vasculitis in childhood. The primary organs involved are the skin, gastrointestinal (GI) tract, joints, and kidneys. The spectrum of GI involvement in IgAV ranges from being mild and self-limited to severe manifestations often requiring surgical intervention. Galactose-deficient IgA1 on the immunoglobulin hinge region and its immune complexes are thought to play a central pathogenetic role in IgAV, however, an association between such molecules and specific GI mucosal damage remains unclear. GI endoscopy (both upper and lower) shows a variety of mucosal findings, many of which are not specific for IgAV. In upper GI endoscopy, however, the mucosal features can be diagnostic when found localized in the more distal part of upper GI tract (second and/or third parts of the duodenum). Abdominal computed tomography and capsule endoscopy have demonstrated that the small intestine is most commonly involved in IgAV. The GI mucosal involvement when evaluated microscopically shows IgA deposition which is histologically diagnostic. Conversely, leukocytoclastic vasculitis is less useful. Since the 1960s, cases of duodenojejunitis, in which IgAV was suspected but evident purpura was not dermatologically present, have often been labeled as "idiopathic". In a pediatric case series, IgA enteropathy, without dermatological manifestations (i.e., purpura), was reported to have similar symptoms, as well as endoscopic characteristics and immunohistological findings as in IgAV. Subsequently, several case reports provide additional supportive evidence that IgA enteropathy must be a variant of IgAV. Thus, the immunologically driven auto-immune vasculitis results in the symptom complex dependent on the organ system involved, and the subsequent clinical features which are manifested. Present classification criteria are useful and universally available for diagnosing IgAV. However, based upon current knowledge including IgA enteropathy, minor modification of the IgAV criteria is proposed in the review.

Background: Antiphospholipid syndrome (APS) is a systemic autoimmune disorder that can manifest as thrombosis in the pediatric population, characterized by persistently positive antiphospholipid antibodies. APS is infrequently observed in children and could represent non-criteria manifestations.

Case presentation: A six-year-old Chinese female presented with jaundice and dark urine, leading to a diagnosis of hemolytic anemia. Prednisone therapy initially improved her complexion, but she later developed neurological symptoms. Further laboratory tests showed intravascular hemolysis, coagulation abnormalities, and a positive lupus anticoagulant (LA) test result. Magnetic resonance imaging (MRI) scan revealed abnormal signals in the pons and cerebellar hemispheres, and an occluded part of the basilar artery. She was subsequently diagnosed with autoimmune encephalitis and received IG(immunoglobulin) and high-dose glucocorticoid (GC) treatment, leading to improvement in her clinical symptoms. However, the symptoms of hemolytic anemia worsened after two years. Subsequent laboratory assessments demonstrated the presence of intravascular hemolysis, coagulation abnormalities, and positive tests of anticardiolipin, LA, and anti-beta2 glycoprotein I antibodies. Elevated troponin I and N-terminal pro-brain natriuretic peptide levels, along with electrocardiogram and echocardiogram findings, indicated a myocardial infarction and a thrombus-like mass in the left auricle. Brain MRI showed multifocal infarction and cerebrovascular obstruction. She was diagnosed with APS accompanied by hemolytic anemia, cerebrovascular obstruction, and myocardial infarction. After several weeks of treatment with GC, IG, rituximab, hydroxychloroquine alone with low-molecular-weight heparin sodium, and warfarin, there was a marked improvement in the patient's condition.

Conclusion: Pediatricians should be familiar with various presentations of pediatric APS to promptly detect possible aPL-related complications and initiate appropriate management strategies early on.

Introduction: Sepsis is the leading cause of child death worldwide, with the majority of these deaths occurring in low- and middle-income countries (LMICs). The aim of this systematic review and meta-analysis was to describe clinical prognostic scores and models for pediatric sepsis outcomes and assess the performance of these scores for predicting mortality in LMICs.

Methods: Ovid Medline, CINAHL, Cochrane Library, EBSCO Global Health, and Web of Science, were searched through September 2022 for citations related to the development or validation of a clinical prognostic score or model among children with sepsis, conducted in LMIC. Titles, abstracts, and full texts were screened by two independent reviewers and data extracted included population characteristics, variables included, outcomes, and model performance. Risk of bias was assessed with the Prediction Model Risk of Bias Assessment Tool (PROBAST).

Results: 4,251 titles/abstracts and 315 full-text studies were screened, with 12 studies meeting inclusion criteria. Study countries included India, China, Egypt, Indonesia, Tanzania, and a multi-site study in Latin America. Prognostic scores/models included existing scores such as PELOD-2, pSOFA, PRISM, P-MODS, refractory shock criteria. There was high risk of bias in all studies. Meta-analysis was possible for pSOFA, PELOD-2, PRISM, and P-MODS, with pooled area under the receiver-operator characteristic curve of 0.86 (95%CI 0.78-0.94), 0.83 (95% CI 0.76-0.91), respectively.

Conclusion: Relatively few clinical scores and models have been externally validated for prognostication and risk-stratification among children with sepsis in diverse LMIC settings. Notably there were no studies from low-income countries. Some potentially relevant studies were excluded due to lack of clarity regarding the presence of sepsis in the study populations. More widespread and standardized use of sepsis criteria may aid in better understanding the burden of sepsis and prognostic model performance at the bedside among children in LMICs. Further research to externally validate, implement and adapt these models is needed to account for challenges in use of these scores in resource-limited settings.

Systematic review registration: https://www.crd.york.ac.uk/prospero/display_record.php?ID=CRD42022340126, PROSPERO [CRD42022340126].

Hypoketotic hypoglycemia due to dysregulated insulin secretion is the most common cause of persistent hypoglycemia in children. However, this type of hypoglycemia can also result from defects in the insulin signaling pathway. Distinguishing between the two is important for informing treatment decisions. Here we describe the case of a 10-year-old female with fasting and postprandial hypoglycemia who was found to have a missense variant in the INSR gene, which we functionally characterized. The proband presented with fasting and postprandial hypoglycemia at age six. Diagnostic evaluation was consistent with hypoketotic hypoglycemia suspected to be due to hyperinsulinism, and she was treated with diazoxide. Whole exome sequencing identified a maternally inherited heterozygous missense variant in INSR. Phenotypic studies on the mother were consistent with postprandial hypoglycemia. Phosphorylated Akt and ERK1/2 levels were higher at baseline and in response to stimulation with insulin in 3T3-L1 cells expressing mutant INSR compared to cells expressing wild type INSR. Thus, herein we present a heterozygous missense variant in INSR (c.1151A>G, p.Asn384Ser) that results in constitutive and increased activation of the human insulin receptor, leading to both fasting and postprandial hypoglycemia.

Background: Failure of successful transition to adult care for adolescents and young adults with chronic rheumatic diseases negatively impacts their health and wellbeing. Transition of care is a vital and complex process within pediatric rheumatology that can be difficult to execute. Use of quality improvement (QI) and clinical informatics (CI) can help implement transition programs.

Local problem: Despite efforts to improve transition of care within our pediatric rheumatology clinic, it has been difficult to implement and sustain good transition practices including assessment of transition readiness. Using QI methodology and CI, this study aimed to improve transition readiness assessment from 12 to 30% and sustain for one year by surveying transitioning patients yearly.

Methods: A transition-focused QI team utilized methods endorsed by the Institute for Healthcare Improvement and leveraged CI to improve survey completion. Control charts of survey completion rates were tracked monthly. Descriptive statistics were used to analyze survey responses.

Interventions: Interventions focused on automation of patient surveys at regularly scheduled clinic visits.

Results: 1,265 questionnaires were administered to 1,158 distinct patients. Survey completion rose from a baseline of 12% to greater than 90% and was sustained over 18 months. Identified educational needs included health insurance, scheduling appointments, obtaining care outside of rheumatology clinic business hours, Electronic Health Record messaging, and refilling medications.

Conclusions: By leveraging CI and QI methodology, we were able to assess transition readiness in more than 90% of our patients and identify gaps in self-management. Process automation can create sustainable transition practices.