Publications by authors named "Charlotte Hobbs"

Purpose: The etiopathogenesis of coronal nonsyndromic craniosynostosis (cNCS), a congenital condition defined by premature fusion of 1 or both coronal sutures, remains largely unknown.

Methods: We conducted the largest genome-wide association study of cNCS followed by replication, fine mapping, and functional validation of the most significant region using zebrafish animal model.

Results: Genome-wide association study identified 6 independent genome-wide-significant risk alleles, 4 on chromosome 7q21.

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Pediatric COVID-19 vaccination is effective in preventing COVID-19-related hospitalization, but duration of protection of the original monovalent vaccine during SARS-CoV-2 Omicron predominance merits evaluation, particularly given low coverage with updated COVID-19 vaccines. During December 19, 2021-October 29, 2023, the Overcoming COVID-19 Network evaluated vaccine effectiveness (VE) of ≥2 original monovalent COVID-19 mRNA vaccine doses against COVID-19-related hospitalization and critical illness among U.S.

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We describe a case of a 2-year-old child who expelled a single adult female Ascaris lumbricoides worm. The patient is from a rural county in Mississippi, USA, with no reported travel outside of the United States. The caregivers in the home practice good sanitation.

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Article Synopsis
  • A study investigated the impact of pre-existing immunocompromising conditions (ICCs) on pediatric patients with acute COVID-19 admitted to intensive care across 55 hospitals in the U.S.!
  • Out of 1,274 patients, 105 had ICCs, which were linked to higher in-hospital mortality (11.4% vs. 4.6%) and longer hospital stays, although initial disease severity was similar between those with and without ICCs.!
  • Despite the challenges, most patients with ICCs survived and left the hospital without new severe health issues, highlighting a positive aspect of the outcomes for these vulnerable patients.!
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  • A study analyzed the clinical characteristics and vaccination status of young children hospitalized for acute COVID-19 across 28 pediatric hospitals in the U.S. from September 2022 to May 2023.
  • Of the 597 children examined, only 4.5% had completed their primary COVID-19 vaccination series, while 7.0% had started but not completed it, with the majority being unvaccinated.
  • Most children admitted with severe COVID-19, including those requiring intensive care, were previously healthy and had not initiated vaccination, highlighting a concerning gap in immunization among vaccine-eligible young kids.
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Recent reports of hookworm infection in Alabama, USA, has prompted surveillance in Mississippi, given the states' similar environmental conditions. We collected stool specimens from 277 children in Rankin County, Mississippi. Kato-Katz microscopic smear, agar plate culture, and quantitative PCR indicated no soil-transmitted helminths.

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Circular extrachromosomal DNA (ecDNA) in patient tumors is an important driver of oncogenic gene expression, evolution of drug resistance and poor patient outcomes. Applying computational methods for the detection and reconstruction of ecDNA across a retrospective cohort of 481 medulloblastoma tumors from 465 patients, we identify circular ecDNA in 82 patients (18%). Patients with ecDNA-positive medulloblastoma were more than twice as likely to relapse and three times as likely to die within 5 years of diagnosis.

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Objective: To identify risk factors for persistent impairments after pediatric hospitalization for acute coronavirus disease 2019 (COVID-19) or multisystem inflammatory syndrome in children (MIS-C) during the SARS-CoV-2 pandemic.

Methods: Across 25 U.S.

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Article Synopsis
  • Knowledge graphs are increasingly used for representing knowledge, but their complexity and the diversity of sources make integration difficult due to semantic incompatibilities.
  • The Biomedical Translator Consortium has created a question-answering system called the Translator, which aids human reasoning by addressing biomedical queries related to various diseases.
  • A monthly "Question-of-the-Month Challenge" has been established to explore specific issues like drug-related liver injury and coronavirus, providing insights and identifying technical challenges to enhance the Translator system, while also comparing it to Large Language Models like ChatGPT.
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Article Synopsis
  • Infants under 6 months are not eligible for COVID-19 vaccines, but maternal vaccination during pregnancy can help protect these infants from being hospitalized due to COVID-19.
  • A study found that vaccinated mothers showed a 35% effectiveness in preventing COVID-19-related hospitalizations in infants under 6 months and 54% for those under 3 months.
  • Vaccinated mothers had lower rates of severe outcomes for their infants, such as intensive care unit admissions and the need for mechanical ventilation, highlighting the importance of vaccination for expectant mothers.*
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In Mississippi, USA, infant hospitalization with congenital syphilis (CS) spiked by 1,000%, from 10 in 2016 to 110 in 2022. To determine the causes of this alarming development, we analyzed Mississippi hospital discharge data to evaluate trends, demographics, outcomes, and risk factors for infants diagnosed with CS hospitalized during 2016–2022. Of the 367 infants hospitalized with a CS diagnosis, 97.

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Oculogastrointestinal neurodevelopmental syndrome has been described in seven previously published individuals who harbor biallelic pathogenic variants in the CAPN15 gene. Biallelic missense variants have been reported to demonstrate a phenotype of eye abnormalities and developmental delay, while biallelic loss of function variants exhibit phenotypes including microcephaly and craniofacial abnormalities, cardiac and genitourinary malformations, and abnormal neurologic activity. We report six individuals from three unrelated families harboring biallelic deleterious variants in CAPN15 with phenotypes overlapping those previously described for this disorder.

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Importance: Respiratory syncytial virus (RSV) is the leading cause of lower respiratory tract infections (LRTIs) and infant hospitalization worldwide.

Objective: To evaluate the characteristics and outcomes of RSV-related critical illness in US infants during peak 2022 RSV transmission.

Design, Setting, And Participants: This cross-sectional study used a public health prospective surveillance registry in 39 pediatric hospitals across 27 US states.

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Importance: Acute neurological involvement occurs in some patients with multisystem inflammatory syndrome in children (MIS-C), but few data report neurological and psychological sequelae, and no investigations include direct assessments of cognitive function 6 to 12 months after discharge.

Objective: To characterize neurological, psychological, and quality of life sequelae after MIS-C.

Design, Setting, And Participants: This cross-sectional cohort study was conducted in the US and Canada.

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The risk of congenital heart defects (CHDs) may be influenced by maternal genes, fetal genes, and their interactions. Existing methods commonly test the effects of maternal and fetal variants one-at-a-time and may have reduced statistical power to detect genetic variants with low minor allele frequencies. In this article, we propose a gene-based association test of interactions for maternal-fetal genotypes (GATI-MFG) using a case-mother and control-mother design.

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Ependymoma is a tumor of the brain or spinal cord. The two most common and aggressive molecular groups of ependymoma are the supratentorial ZFTA-fusion associated and the posterior fossa ependymoma group A. In both groups, tumors occur mainly in young children and frequently recur after treatment.

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Background: In a 2020 pilot case-control study using medical records, we reported that non-Hispanic Black children were more likely to develop multisystem inflammatory syndrome in children (MIS-C) after adjustment for sociodemographic factors and underlying medical conditions. Using structured interviews, we investigated patient, household, and community factors underlying MIS-C likelihood.

Methods: MIS-C case patients hospitalized in 2021 across 14 US pediatric hospitals were matched by age and site to outpatient controls testing positive for severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) within 3 months of the admission date.

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Objectives: Extracorporeal membrane oxygenation (ECMO) has been used successfully to support adults with severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2)-related cardiac or respiratory failure refractory to conventional therapies. Comprehensive reports of children and adolescents with SARS-CoV-2-related ECMO support for conditions, including multisystem inflammatory syndrome in children (MIS-C) and acute COVID-19, are needed.

Design: Case series of patients from the Overcoming COVID-19 public health surveillance registry.

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Article Synopsis
  • This study focused on children and adolescents hospitalized for COVID-19, evaluating the prevalence of bacterial coinfections and the use of empiric antibiotics during their stay.
  • Of the 532 patients analyzed, 63.3% received antibiotics, but only 7.1% had bacterial coinfections, with just 3.0% having respiratory bacterial coinfections.
  • The results indicate that while antibiotic use is common in these cases, bacterial coinfections are rare, suggesting that more careful antibiotic prescribing and quicker assessment for coinfection could be beneficial.
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Background: Rapidly and efficiently identifying critically ill infants for whole genome sequencing (WGS) is a costly and challenging task currently performed by scarce, highly trained experts and is a major bottleneck for application of WGS in the NICU. There is a dire need for automated means to prioritize patients for WGS.

Methods: Institutional databases of electronic health records (EHRs) are logical starting points for identifying patients with undiagnosed Mendelian diseases.

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Objective: Evidence regarding effectiveness of interleukin-1 receptor antagonism in multisystem inflammatory syndrome in children (MIS-C) is lacking. We characterized variation in initial treatment with anakinra and evaluated cardiovascular outcomes associated with adding anakinra to standard initial therapy.

Methods: We conducted a retrospective cohort study of MIS-C cases in a US surveillance registry from November 2020 to December 2021.

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Short Tandem Repeats (STRs) have been found to play a role in a myriad of complex traits and genetic diseases. We examined the variability in the lengths of over 850,000 STR loci in 996 children with suspected genetic disorders and 1,178 parents across six separate ancestral groups: Africans, Europeans, East Asians, Admixed Americans, Non-admixed Americans, and Pacific Islanders. For each STR locus we compared allele length between and within each ancestry group.

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