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  • 1
    In: Nature Medicine, Springer Science and Business Media LLC, Vol. 29, No. 1 ( 2023-01), p. 180-189
    Abstract: Pregnancy loss and perinatal death are devastating events for families. We assessed ‘genomic autopsy’ as an adjunct to standard autopsy for 200 families who had experienced fetal or newborn death, providing a definitive or candidate genetic diagnosis in 105 families. Our cohort provides evidence of severe atypical in utero presentations of known genetic disorders and identifies novel phenotypes and disease genes. Inheritance of 42% of definitive diagnoses were either autosomal recessive (30.8%), X-linked recessive (3.8%) or autosomal dominant (excluding de novos, 7.7%), with risk of recurrence in future pregnancies. We report that at least ten families (5%) used their diagnosis for preimplantation (5) or prenatal diagnosis (5) of 12 pregnancies. We emphasize the clinical importance of genomic investigations of pregnancy loss and perinatal death, with short turnaround times for diagnostic reporting and followed by systematic research follow-up investigations. This approach has the potential to enable accurate counseling for future pregnancies.
    Type of Medium: Online Resource
    ISSN: 1078-8956 , 1546-170X
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2023
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    detail.hit.zdb_id: 1220066-9
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  • 2
    In: EMBO Molecular Medicine, Springer Science and Business Media LLC, Vol. 5, No. 2 ( 2013-02), p. 210-220
    Abstract: Kawasaki disease (KD) is a systemic vasculitis of unknown etiology. Absence of definitive diagnostic markers limits the accuracy of clinical evaluations of suspected KD with significant increases in morbidity. In turn, incomplete understanding of its molecular pathogenesis hinders the identification of rational targets needed to improve therapy. We used high‐accuracy mass spectrometry proteomics to analyse over 2000 unique proteins in clinical urine specimens of patients with KD. We discovered that urine proteomes of patients with KD, but not those with mimicking conditions, were enriched for markers of cellular injury such as filamin and talin, immune regulators such as complement regulator CSMD3, immune pattern recognition receptor muclin, and immune cytokine protease meprin A. Significant elevations of filamin C and meprin A were detected in both the serum and urine in two independent cohorts of patients with KD, comprised of a total of 236 patients. Meprin A and filamin C exhibited superior diagnostic performance as compared to currently used markers of disease in a blinded case‐control study of 107 patients with suspected KD, with receiver operating characteristic areas under the curve of 0.98 (95% confidence intervals [CI] of 0.97–1 and 0.95–1, respectively). Notably, meprin A was enriched in the coronary artery lesions of a mouse model of KD. In all, urine proteome profiles revealed novel candidate molecular markers of KD, including filamin C and meprin A that exhibit excellent diagnostic performance. These disease markers may improve the diagnostic accuracy of clinical evaluations of children with suspected KD, lead to the identification of novel therapeutic targets, and allow the development of a biological classification of Kawasaki disease.
    Type of Medium: Online Resource
    ISSN: 1757-4676 , 1757-4684
    URL: Issue
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 2013
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    detail.hit.zdb_id: 2485479-7
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  • 3
    In: Clinical Infectious Diseases, Oxford University Press (OUP), Vol. 77, No. 11 ( 2023-11-30), p. 1604-1611
    Abstract: Incomplete uptake of guidelines can lead to nonstandardized care, increased expenditures, and adverse clinical outcomes. The objective of this study was to evaluate the impact of the 2011 Pediatric Infectious Diseases Society and Infectious Diseases Society of America (PIDS/IDSA) pediatric community-acquired pneumonia (CAP) guideline that emphasized aminopenicillin use and de-emphasized the use of chest radiographs (CXRs) in certain populations. Methods This quasi-experimental study queried a national administrative database of children's hospitals to identify children aged 3 months–18 years with CAP who visited 1 of 28 participating hospitals from 2009 to 2021. PIDS/IDSA pediatric CAP guideline recommendations regarding antibiotic therapy, diagnostic testing, and imaging were evaluated. Segmented regression interrupted time series was used to measure guideline-concordant practices with interruptions for guideline publication and the Coronavirus Disease 2019 (COVID-19) pandemic. Results Of 315 384 children with CAP, 71 804 (22.8%) were hospitalized. Among hospitalized children, there was a decrease in blood culture performance (0.5% per quarter) and increase in aminopenicillin prescribing (1.1% per quarter). Among children discharged from the emergency department (ED), there was an increase in aminopenicillin prescription (0.45% per quarter), whereas the rate of obtaining CXRs declined (0.12% per quarter). However, use of CXRs rebounded during the COVID-19 pandemic (increase of 1.56% per quarter). Hospital length of stay, ED revisit rates, and hospital readmission rates remained stable. Conclusions Guideline publication was associated with an increase of aminopenicillin prescribing. However, rates of diagnostic testing did not materially change, suggesting the need to consider implementation strategies to meaningfully change clinical practice for children with CAP.
    Type of Medium: Online Resource
    ISSN: 1058-4838 , 1537-6591
    RVK:
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2023
    detail.hit.zdb_id: 1099781-7
    detail.hit.zdb_id: 2002229-3
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  • 4
    In: Clinical Infectious Diseases, Oxford University Press (OUP), Vol. 63, No. 7 ( 2016-10-01), p. 922-928
    Type of Medium: Online Resource
    ISSN: 1058-4838 , 1537-6591
    RVK:
    Language: English
    Publisher: Oxford University Press (OUP)
    Publication Date: 2016
    detail.hit.zdb_id: 1099781-7
    detail.hit.zdb_id: 2002229-3
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  • 5
    Online Resource
    Online Resource
    American Academy of Pediatrics (AAP) ; 2020
    In:  Pediatrics Vol. 145, No. 3 ( 2020-03-01)
    In: Pediatrics, American Academy of Pediatrics (AAP), Vol. 145, No. 3 ( 2020-03-01)
    Abstract: National guidelines recommend against routine use of chest radiography (CXR) for community-acquired pneumonia (CAP) diagnosis in the pediatric emergency department (ED). Given that CXR is often used to exclude the diagnosis of CAP, a reduction in CXR use may result in overdiagnosis of CAP. We sought to evaluate trends in CXR use and assess the association between CXR performance and CAP diagnosis among children discharged from pediatric EDs. METHODS: Children 3 months to 18 years of age discharged from 30 US EDs with (1) CAP or (2) fever or respiratory illness between 2008 and 2018 were included. Temporal trends in CXR use and rates of CAP diagnoses among patients with fever or respiratory illness were assessed. Correlation between hospital-level CXR use and CAP diagnosis rates were evaluated by using Spearman’s correlation weighted by hospital volume. RESULTS: CXR usage decreased from 86.6% to 80.4% (P & lt; .001) for patients with CAP and from 30.4% to 18.6% (P & lt; .001) for children with fever or respiratory illness over the 10-year study period. CAP diagnosis rates also declined from 7.8% to 5.9% (P & lt; .001). Hospital-level CXR use was correlated with pneumonia diagnosis rates (correlation coefficient 0.58; P & lt; .001). CONCLUSIONS: Over the past decade, there has been a decline in CXR use in the ED among children with pneumonia and respiratory illnesses, with a decrease in pneumonia diagnoses over the same time period. Future studies are needed to assess the role of CXR in the evaluation of children with possible pneumonia in the ED setting.
    Type of Medium: Online Resource
    ISSN: 0031-4005 , 1098-4275
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 2020
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    detail.hit.zdb_id: 207677-9
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  • 6
    In: Journal of Hospital Medicine, Wiley, Vol. 19, No. 8 ( 2024-08), p. 693-701
    Abstract: Emerging evidence suggests that initial oral and intravenous (IV) antibiotics have similar efficacy in pediatric community‐acquired pneumonia (CAP), but further data are needed. Objective We determined the association between hospital‐level initial oral antibiotic rates and outcomes in pediatric CAP. Designs, Settings, and Participants This retrospective cohort study included children hospitalized with CAP at 43 hospitals in the Pediatric Health Information System (2016–2022). Hospitals were grouped by whether initial antibiotics were given orally in a high, moderate, or low proportion of patients. Main Outcome and Measures Regression models examined associations between high versus low oral‐utilizing hospitals and length of stay (LOS, primary outcome), intensive care unit (ICU) transfers, escalated respiratory care, complicated CAP, cost, readmissions, and emergency department (ED) revisits. Results Initial oral antibiotics were used in 16% (interquartile range: 10%–20%) of 30,207 encounters, ranging from 1% to 68% across hospitals. Comparing high versus low oral‐utilizing hospitals (oral rate: 32% [27%–47%] and 10% [9%–11%] , respectively), there were no differences in LOS, intensive care unit, complicated CAP, cost, or ED revisits. Escalated respiratory care occurred in 1.3% and 0.5% of high and low oral‐utilizing hospitals, respectively (relative ratio [RR]: 2.96 [1.12, 7.81] ), and readmissions occurred in 1.5% and 0.8% (RR: 1.68 [1.31, 2.17]). Initial oral antibiotics varied across hospitals without a difference in LOS. While high oral‐utilizing hospitals had higher escalated respiratory care and readmission rates, these were rare, the clinical significance of these small differences is uncertain, and there were no differences in other clinically relevant outcomes. This suggests some children may benefit from initial IV antibiotics, but most would probably do well with oral antibiotics.
    Type of Medium: Online Resource
    ISSN: 1553-5592 , 1553-5606
    URL: Issue
    Language: English
    Publisher: Wiley
    Publication Date: 2024
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  • 7
    Online Resource
    Online Resource
    American Academy of Pediatrics (AAP) ; 2021
    In:  Hospital Pediatrics Vol. 11, No. 3 ( 2021-03-01), p. 277-283
    In: Hospital Pediatrics, American Academy of Pediatrics (AAP), Vol. 11, No. 3 ( 2021-03-01), p. 277-283
    Abstract: Children with deep neck infections (DNIs) are increasingly being managed nonsurgically with intravenous antibiotics. Our objective was to examine variation in the management of children with DNIs across US children’s hospitals. METHODS: We conducted a retrospective cohort study using the Pediatric Health Information System database. Children ≤12 years of age hospitalized for retropharyngeal or parapharyngeal abscesses from 2010 to 2018 were included. Hospital variation in management modality and imaging use was described. Temporal trends in management modality were assessed by using logistic regression. Medical management alone versus a combination of medical and surgical management was assessed, and the characteristics of children in these 2 groups were compared. The relationship between hospital rates of initial medical management and failed medical management was assessed by using linear regression. RESULTS: Hospitals varied widely in their rates of surgical management from 17% to 70%. The overall rate of surgical management decreased from 42.0% to 33.5% over the study period. Children managed surgically had higher rates of ICU admission (11.5% vs 3.2%; P & lt; .001) and higher hospital charges ($25 241 vs $15 088; P & lt; .001) compared with those managed medically alone. Seventy-three percent of children underwent initial medical management, of whom 17.9% went on to undergo surgery. Hospitals with higher rates of initial medical management had lower rates of failed medical management (β = −.43). CONCLUSIONS: Although rates of surgical management of pediatric DNI are decreasing over time, there remains considerable variation in management across US children’s hospitals. Children managed surgically have higher rates of resource use and costs.
    Type of Medium: Online Resource
    ISSN: 2154-1663 , 2154-1671
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 2021
    detail.hit.zdb_id: 2637594-1
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  • 8
    Online Resource
    Online Resource
    American Academy of Pediatrics (AAP) ; 2023
    In:  Hospital Pediatrics Vol. 13, No. 7 ( 2023-07-01), p. 614-623
    In: Hospital Pediatrics, American Academy of Pediatrics (AAP), Vol. 13, No. 7 ( 2023-07-01), p. 614-623
    Abstract: Chest radiograph (CXR) is often performed for the evaluation of community-acquired pneumonia (CAP) in the ED setting. We sought to evaluate the association of undergoing CXR with 7-day hospitalization after emergency department (ED) discharge among patients with CAP. METHODS This was a retrospective cohort study including children 3 months to 17 years discharged from any ED within 8 states from 2014 to 2019. We evaluated the association of CXR performance with 7-day hospitalization at both the patient and ED levels using mixed-effects logistic regression models accounting for markers of illness severity. Secondary outcomes included 7-day ED revisits and 7-day hospitalization with severe CAP. RESULTS Among 206 694 children with CAP, rates of 7-day ED revisit, hospitalization, and severe CAP were 8.9%, 1.6%, and 0.4%, respectively. After adjusting for illness severity, CXR was associated with fewer 7-day hospitalizations (1.6% vs. 1.7%, adjusted odds ratio: [aOR] 0.82, 95% confidence interval [CI] : 0.73–0.92). CXR performance varied somewhat between EDs (median 91.5%, IQR: 85.3%–95.0%). EDs in the highest quartile had fewer 7-day hospitalizations (1.4% vs 1.9%, aOR: 0.78, 95% CI: 0.65-0.94), ED revisits (8.5% vs 9.4%, aOR: 0.88, 95% CI: 0.80–0.96) and hospitalizations for severe CAP (0.3% vs. 0.5%, aOR: 0.70, 95% CI: 0.51–0.97) as compared to EDs with the lowest quartile of CXR utilization. CONCLUSIONS Among children discharged from the ED with CAP, performance of CXR was associated with a small but significant reduction in hospitalization within 7 days. CXR may be helpful in the prognostic evaluation of children with CAP discharged from the ED.
    Type of Medium: Online Resource
    ISSN: 2154-1663 , 2154-1671
    Language: English
    Publisher: American Academy of Pediatrics (AAP)
    Publication Date: 2023
    detail.hit.zdb_id: 2637594-1
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  • 9
    Online Resource
    Online Resource
    Springer Science and Business Media LLC ; 1992
    In:  Canadian Journal of Anaesthesia Vol. 39, No. S1 ( 1992-5), p. A3-A151
    In: Canadian Journal of Anaesthesia, Springer Science and Business Media LLC, Vol. 39, No. S1 ( 1992-5), p. A3-A151
    Type of Medium: Online Resource
    ISSN: 0832-610X , 1496-8975
    Language: English
    Publisher: Springer Science and Business Media LLC
    Publication Date: 1992
    detail.hit.zdb_id: 91002-8
    detail.hit.zdb_id: 2050416-0
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  • 10
    Online Resource
    Online Resource
    California Digital Library (CDL) ; 2022
    In:  Clinical Practice and Cases in Emergency Medicine Vol. 6, No. 1 ( 2022-1-15), p. 103-104
    In: Clinical Practice and Cases in Emergency Medicine, California Digital Library (CDL), Vol. 6, No. 1 ( 2022-1-15), p. 103-104
    Abstract: Case Presentation: An eight-week-old infant presented to the emergency department with two weeks of fluctuating swelling and erythema of her right upper eyelid. On examination, she had swelling of the right upper eyelid with ptosis and proptosis as well as a nevus simplex on the upper eyelid. Orbital magnetic resonance imaging demonstrated a proliferating orbital hemangioma. Discussion: Periorbital erythema and swelling are often infectious or allergic, but in infants with a fluctuating course, underlying vascular malformation must be considered. Without early provider recognition, periocular hemangiomas have the potential to cause vision-related complications.
    Type of Medium: Online Resource
    ISSN: 2474-252X , 2474-252X
    URL: Issue
    Language: Unknown
    Publisher: California Digital Library (CDL)
    Publication Date: 2022
    detail.hit.zdb_id: 3019418-0
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