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The Journal of pediatrics
Mosby-Year Book
The Journal of pediatrics

Mosby-Year Book

0022-3476

The Journal of pediatrics/Journal The Journal of pediatrics
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    Outcome of Later-Onset Pompe Disease Identified Through Newborn Screening

    Lee N.-C.Chang K.-L.in 't Groen S.L.M.de Faria D.O.S....
    9页
    查看更多>>摘要：? 2021 The Author(s)Objective: To determine the outcomes of patients with later-onset Pompe disease (LOPD) identified through newborn screening (NBS). Study design: A prospective observational cohort study was conducted from the initiation of Pompe disease NBS by following subjects every 3-12 months for motor development and biochemical markers. Results: Between 2005 and 2018, 39 of 994 975 newborns evaluated were classified as having LOPD based on low acid α-glucosidase (GAA) activity but no cardiac involvement at the time of screening. As of December 2020, 8 of these 39 infants (21%) were treated with enzyme replacement therapy owing to persistent elevation of creatine kinase (CK), cardiac involvement, or developmental delay. All subjects' physical performance and endurance improved after treatment. Subjects carrying c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] presented a phenotype of nonprogressive hypotonia, muscle weakness, and impairment in physical fitness tests, but they have not received treatment. Conclusions: One-fifth of subjects identified through NBS as having LOPD developed symptoms after a follow-up of up to 15 years. NBS was found to facilitate the early detection and early treatment of those subjects. GAA variants c.[752C>T;761C>T] and c.[546+5G>T; 1726G>A] might not cause Pompe disease but still may affect skeletal muscle function.
      原文链接:
    • NSTL
    • Elsevier

    Quality of Life of Children Born with a Congenital Heart Defect

    Derridj N.Bonnet D.Calderon J.Amedro P....
    6页
    查看更多>>摘要：? 2022 Elsevier Inc.Objectives: To identify subgroups with a congenital heart defect (CHD) at risk of health-related quality of life (QoL) impairment at 8 years of age according to their medical and surgical management. Study design: From a prospective population-based cohort study, 598 patients with CHD were subdivided according to their medical and surgical management: (1) CHD followed-up in an outpatient clinic, (2) complete repair before age 3 years, (3) complete repair after age 3 years, (4) palliative repair, or (5) CHD with spontaneous resolution (reference subgroup). Self-reported QoL and parent-reported QoL were measured using the Pediatric Quality of Life Inventory version 4.0 (score range, 0-100) at age 8 years. Multivariable regression analysis and Cohen effect size were used to compare outcomes across the CHD groups. Results: Self-reported and parent-reported QoL scores for the palliative repair subgroup were lower (β = ?2.1 [95% CI, ?3.9 to ?0.2] and β = ?16.0 [95% CI, ?22.4 to ?9.5], respectively), with a large effect size (δ = ?0.9 [95% CI, ?1.4 to ?0.4] and δ = ?1.3 [95% CI, ?1.8 to ?0.7], respectively). Parent-reported QoL scores for the complete repair after age 3 years subgroup were lower (β = ?9.2; 95% CI, ?15.0 to ?3.5), with a large effect size (δ = ?0.9; 95% CI, ?1.4 to ?0.5). Self-reported QoL scores for the complete repair before age 3 years subgroup was lower (β = ?1.3; 95% CI, ?1.9 to ?0.6), with a small effect size (δ = ?0.4; 95% CI, ?0.6 to ?0.2). Conclusions: The QoL of children with CHD who experienced a hospital intervention is reduced at age 8 years. Patient age at the last cardiac intervention might influence QoL at 8 years.
      原文链接:
    • NSTL
    • Elsevier

    Association of Operative Volume and Odds of Surgical Complication for Patients Undergoing Repair of Pectus Excavatum at Children's Hospitals

    Linton S.C.Ghomrawi H.M.K.Tian Y.Many B.T....
    7页
    查看更多>>摘要：? 2021Objective: To determine whether procedure-specific provider volume is associated with outcomes for patients undergoing repair of pectus excavatum at tertiary care children's hospitals. Study design: We performed a cohort study of patients undergoing repair of pectus excavatum between January 1, 2013 and December 31, 2019, at children's hospitals using the Pediatric Health Information System database. The main exposures were the pectus excavatum repair volume quartile of the patient's hospital and the pectus excavatum repair volume category of their surgeon. Our primary outcome was surgical complication, identified using International Classification of Diseases, Ninth Revision, Clinical Modification, and International Classification of Diseases, Tenth Revision, Clinical Modification codes from Pediatric Health Information System. Secondary outcomes included high-cost admission and extended length of stay. Results: In total, 7183 patients with an average age of 15.2 years (SD 2.0), 83% male, 74% non-Hispanic White, 68% no comorbidities, 72% private insurance, and 82% from metro areas were analyzed. Compared with the lowest-volume (≤10 cases/year) quartile of hospitals, patients undergoing repair of pectus excavatum at hospitals in the second (>10-18 cases/year), third (>18-26 cases/year), and fourth (>26 cases/year) volume quartiles had decreased odds of complication of OR 0.52 (CI 0.34-0.82), 0.51 (CI 0.33-0.78), and 0.41 (CI 0.27-0.62), respectively. Patients with pectus excavatum who underwent repair by surgeons in the second (>1-5 cases/year), third (>5-10 cases/year), and fourth (>10 cases/year) volume categories had decreased odds of complication of OR 0.91 (CI 0.68-1.20), OR 0.73 (CI 0.51-1.04), and OR 0.55 (CI 0.39-0.76), respectively, compared with the lowest-volume (≤1 case/year) category of surgeons. Conclusions: Procedure-specific case volume is an important factor when considering providers for elective surgery, even among specialized centers providing comprehensive patient care.
      原文链接:
    • NSTL
    • Elsevier

    Clinical and Financial Impact of a Diagnostic Stewardship Program for Children with Suspected Central Nervous System Infection

    Messacar K.Palmer C.Gregoire L.Elliott A....
    8页
    查看更多>>摘要：? 2022 Elsevier Inc.Objective: To investigate the optimal implementation and clinical and financial impacts of the FilmArray Meningitis Encephalitis Panel (MEP) multiplex polymerase chain reaction testing of cerebrospinal fluid (CSF) in children with suspected central nervous system infection. Study design: A pre–post quasiexperimental cohort study to investigate the impact of implementing MEP using a rapid CSF diagnostic stewardship program was conducted at Children's Hospital Colorado (CHCO). MEP was implemented with electronic medical record indication selection to guide testing to children meeting approved use criteria: infants <2 months, immunocompromised, encephalitis, and ≥5 white blood cells/μL of CSF. Positive results were communicated with antimicrobial stewardship real-time decision support. All cases with CSF obtained by lumbar puncture sent to the CHCO microbiology laboratory meeting any of the 4 aforementioned criteria were included with preimplementation controls (2015-2016) compared with postimplementation cases (2017-2018). Primary outcome was time-to-optimal antimicrobials compared using log-rank test with Kaplan–Meier analysis. Results: Time-to-optimal antimicrobials decreased from 28 hours among 1124 preimplementation controls to 18 hours (P <.0001) among 1127 postimplementation cases (72% with MEP testing conducted). Postimplementation, time-to-positive CSF results was faster (4.8 vs 9.6 hours, P <.0001), intravenous antimicrobial duration was shorter (24 vs 36 hours, P =.004), with infectious neurologic diagnoses more frequently identified (15% vs 10%, P =.03). There were no differences in time-to-effective antimicrobials, hospital admissions, antimicrobial starts, or length of stay. Costs of microbiologic testing increased, but total hospital costs were unchanged. Conclusions: Implementation of MEP with a rapid central nervous system diagnostic stewardship program improved antimicrobial use with faster results shortening empiric therapy. Routine MEP testing for high-yield indications enables antimicrobial optimization with unchanged overall costs.
      原文链接:
    • NSTL
    • Elsevier

    Anthropometric Measures Correspond with Functional Motor Outcomes in Females with Rett Syndrome

    Motil K.J.Geerts S.Annese F.Neul J.L....
    9页
    查看更多>>摘要：? 2022 Elsevier Inc.Objective: To characterize growth and anthropometric measurements in females with Rett syndrome and compare these measurements with functional outcomes. Study design: We obtained longitudinal growth and anthropometric measurements from 1154 females with classic and atypical Rett syndrome seen between 2006 and 2019 in the US Natural History Study. We calculated the Clinical Severity Score, Motor Behavior Assessment score, and arm and leg muscle areas and recorded the functional assessments of arm and hand use and ambulation. We compared growth and anthropometric variables from females with Rett syndrome in regard to normative data. We analyzed Clinical Severity Score, Motor Behavior Assessment, and anthropometric measurements in regard to functional assessments. Results: Growth and anthropometric measurements were significantly lower in females with classic and severe atypical Rett syndrome compared with those classified as mild atypical Rett syndrome and deviated from normative patterns among all 3 groups. Suprailiac skinfold measurements correlated with body mass index measurements in each group. Lower leg muscle area measurements were significantly greater among females in all 3 Rett syndrome groups who ambulated independently compared with those who did not. In females with classic Rett syndrome, arm, thigh, and lower leg muscle area measurements increased significantly over time and were significantly greater among those who had purposeful arm and hand use and independent ambulation compared with those who did not. Conclusions: The pattern of growth and anthropometric measures in females with Rett syndrome differs from normative data and demonstrates clear differences between classic and mild or severe atypical Rett syndrome. Anthropometric measures correspond with functional outcomes and could provide markers supporting efficacy outcomes in clinical trials.
      原文链接:
    • NSTL
    • Elsevier

    Comparison of the First and Second Waves of the Coronavirus Disease 2019 Pandemic in Children and Adolescents in a Middle-Income Country: Clinical Impact Associated with Severe Acute Respiratory Syndrome Coronavirus 2 Gamma Lineage

    Oliveira E.A.Simoes e Silva A.C.Oliveira M.C.L.Colosimo E.A....
    8页
    查看更多>>摘要：? 2022 Elsevier Inc.Objective: To evaluate the severity and clinical outcomes of the SARS-CoV-2 gamma variant in children and adolescents hospitalized with COVID-19 in Brazil. Study design: In this observational retrospective cohort study, we performed an analysis of all 21 591 hospitalized patients aged <20 years with confirmed SARS-CoV-2 infection registered in a national database in Brazil. The cohort was divided into 2 groups according to the predominance of SARS-CoV-2 lineages (WAVE1, n = 11 574; WAVE2, n = 10 017). The characteristics of interest were age, sex, geographic region, ethnicity, clinical presentation, and comorbidities. The primary outcome was time to death, which was evaluated by competing-risks analysis, using cumulative incidence functions. A predictive Fine and Gray competing-risks model was developed based on the WAVE1 cohort with temporal validation in the WAVE2 cohort. Results: Compared with children and adolescents admitted during the first wave, those admitted during the second wave had significantly more hypoxemia (52.5% vs 41.1%; P < .0001) and intensive care unit admissions (28.3% vs 24.9%; P < .0001) and needed more noninvasive ventilatory support (37.3% vs 31.6%; P < .0001). In-hospital deaths and death rates were 896 (7.7%) in the first wave and 765 (7.6%) in the second wave (P = .07). The prediction model of death included age, ethnicity, region, respiratory symptoms, and comorbidities. In the validation set (WAVE2), the C statistic was 0.750 (95% CI, 0.741-0.758; P < .0001). Conclusions: This large national study found a more severe spectrum of risk for pediatric patients with COVID-19 caused by the gamma variant. However, there was no difference regarding the probability of death between the waves.
      原文链接:
    • NSTL
    • Elsevier

    Examining Clinical Practice Guidelines for Male Circumcision: A Systematic Review and Critical Appraisal Using AGREE II

    Pokarowski M.Kim J.K.Milford K.Yadav P....
    8页
    查看更多>>摘要：? 2022Objective: To identify and critically appraise available clinical practice guidelines (CPGs) targeting male circumcision using the Appraisal of Guidelines for Research & Evaluation II (AGREE II) instrument. Study design: A literature search was conducted using electronic databases, CPG databases, and national/international societies providing recommendations to guide clinical decision making for male circumcision. We selected pediatric-focused CPGs related to male circumcision published between January 2010 and December 2020. Non-English CPGs and publications involving narrative reviews, primary research, training manuals, patient and allied health professional guidelines, and technical guides were excluded from our search. Complete CPG documents (including full-text articles, supplemental documents, and associated information) were reviewed. Quality appraisal of CPGs was conducted in accordance with the AGREE II manual. Results: A total of 163 CPGs were identified, of which 93 were screened and 13 were reviewed. All AGREE II domains demonstrated good to excellent interrater reliability, with intraclass correlation coefficients ranging from 0.82 (95% CI, 0.72-0.89) to 0.93 (95% CI, 0.90-0.95). Most CPGs performed satisfactorily in the clarity of presentation domain and performed poorly in the applicability and editorial independence domains. The top 3 CPGs identified were those of the American Academy of Pediatrics, Centers for Disease Control and Prevention, and Canadian Urological Association. Consistencies among the CPGs were demonstrated across most recommendations. Conclusions: Current CPGs are of variable quality, and our findings should be taken into consideration by clinicians and health care professionals when selecting appropriate guidelines for male circumcision.
      原文链接:
    • NSTL
    • Elsevier

    Characteristics and Treatment Outcomes of Pediatric Langerhans Cell Histiocytosis with Thymic Involvement

    Yao J.-F.Wang D.Ma H.-H.Lian H.-Y....
    9页
    查看更多>>摘要：? 2022 Elsevier Inc.Objective: To evaluate the characteristics and treatment outcomes of patients with pediatric Langerhans cell histiocytosis (LCH) with thymic involvement. Study design: We retrospectively described the clinical, biological, and imaging characteristics of a series of 19 patients with pediatric LCH with thymic involvement in our center between September 2016 and December 2019. We further analyzed the treatment response and outcomes of patients treated with chemotherapy or targeted therapy. Results: Thymic involvement was found in 4.4% of a 433-consecutive pediatric LCH cohort; all LCH–thymic involvement presented with multisystem disease. Patients with thymic involvement were typically younger, harboring more lung and thyroid involvement and less bone involvement than those without thymic involvement. Most patients with thymic involvement had alteration of immunocompetence with decreased numbers of T-lymphocyte subsets and immunoglobulin G levels. Overall, 47.1% of patients demonstrated a response after 6 weeks of induction therapy, and 92.3% of the patients who did not respond to the first-line treatment had resolution of thymus after the second-line and/or targeted therapy. The progression/relapse rate showed no difference between patients who shifted to second-line therapy and those to dabrafenib (33.3% vs 25%, P = 1.000). The survival for patients with thymic involvement did not differ from those without thymic involvement. More patients treated with second-line chemotherapy had severe adverse events than those given dabrafenib (88.9% vs 0, P < .001). Conclusions: Thymic involvement was observed rarely in LCH and had specific clinical characteristics. Chemotherapy could resolve most thymic lesions, and BRAF inhibitors might provide a promising treatment option with less toxicity for infants with BRAF-V600E mutation. Trial registration: http://www.chictr.org.cn, identifier: ChiCTR2000030457 (BCH-LCH 2014 study); ChiCTR2000032844 (dabrafenib study).
      原文链接:
    • NSTL
    • Elsevier

    A Proposed Framework for the Clinical Management of Neonatal “Culture-Negative” Sepsis

    Cantey J.B.Prusakov P.
    9页
      原文链接:
    • NSTL
    • Elsevier

    Pediatric Hospitalizations from Immigration Detention in Texas, 2015-2018

    Nwadiuko J.Fredricks K.Polk S.Shah S....
    3页
    查看更多>>摘要：? 2021 The Author(s)Although there are concerns regarding children's health in immigration detention, there are little data regarding hospitalizations in this population. Using 2015-2018 Texas inpatient data, we identified 95 hospitalizations of children in detention and found that most (60%) were driven by infectious causes, and that 37% of these children were admitted to an intensive care unit (ICU) or intermediate ICU.
      原文链接:
    • NSTL
    • Elsevier