1,118 results match your criteria: "Nemours Children's Hospital.[Affiliation]"

Pathogenic variants in multiple genes on the X chromosome have been implicated in syndromic and non-syndromic intellectual disability disorders. ZFX on Xp22.11 encodes a transcription factor that has been linked to diverse processes including oncogenesis and development, but germline variants have not been characterized in association with disease.

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The coronavirus disease 2019 (COVID-19) pandemic has caused significant medical, social, and economic impacts globally, both in the short and long term. Although most individuals recover within a few days or weeks from an acute infection, some experience longer lasting effects. Data regarding the postacute sequelae of severe acute respiratory syndrome coronavirus 2 infection (PASC) in children, or long COVID, are only just emerging in the literature.

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J Am Coll Radiol

March 2024

Center for Pediatric and Maternal Value, Stanford Medicine Children's Health, Palo Alto, California; Department of Pediatrics, Baylor College of Medicine, Houston, Texas; Chief Safety Officer, Deputy Chief Quality Officer, Texas Children's Hospital.

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Autosomal recessive polycystic kidney disease (ARPKD) is often associated with hepatobiliary disease in the form of hepatic fibrosis and/or Caroli disease. Combined liver-kidney transplantation (CLKT) is a transplant modality of choice in children with both end-stage renal disease (ESRD) and severe hepatic disease. However, there is no consensus on whether children with ARPKD-associated ESRD without severe hepatic disease can be treated with isolated kidney transplantation (KT) without the need for CLKT.

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The urachus is an embryologic remnant that connects the bladder to the umbilicus and typically obliterates during gestation. Urachal cysts are one of the most common congenital urachal anomalies. Urachal cysts may be found incidentally on imaging or present as a palpable mass with abdominal pain and fever.

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We conducted a retrospective chart review of patients with neuromuscular scoliosis following spinal fusion surgery who were cared for post-operatively by either a hospitalist/orthopedics co-management team or a complex care clinic (CCC). Assignment to either treatment group was not random. To account for baseline differences between groups, we calculated propensity scores and used these as probability weights in generalized linear models.

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Restrictive abortion laws have impacts reaching far beyond the immediate sphere of reproductive health, with cascading effects on clinical and ethical aspects of neonatal care, as well as perinatal palliative care. These laws have the potential to alter how families and clinicians navigate prenatal and postnatal medical decisions after a complex fetal diagnosis is made. We present a hypothetical case to explore the nexus of abortion care and perinatal care of fetuses and infants with life-limiting conditions.

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No Value Found With Routine Early Postoperative Radiographs after Implant Removal in Pediatric Patients.

J Am Acad Orthop Surg

May 2024

From the University of Central Florida College of Medicine, Orlando, FL (Garner and Ibanez), Department of Orthopedics, Nemours Children's Hospital Florida, Orlando, FL (Erkilinc, Espina-Rey, Ilgenfritz, Lovejoy, and Malone).

Background: Implants are routinely removed in pediatric patients. Fracture through the prior implant site is a common worry after implant removal. Early post-implant removal radiographs are routinely used to evaluate the prior implant removal sites and to assess when a patient may return to normal activities.

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Efficacy and Safety of Eculizumab in Enteroaggregative Associated Hemolytic Uremic Syndrome.

Pediatr Rep

January 2024

Division of Pediatric Nephrology, Department of Pediatrics, University of Florida, Gainesville, FL 32610, USA.

Article Synopsis
  • Hemolytic uremic syndrome (HUS) can occur in atypical forms, showing symptoms without the typical triad, and eculizumab has proven helpful in treating certain types of HUS, including those linked to enteroaggregative E. coli (EAEC).
  • A case of a toddler with hemolytic anemia and acute kidney injury was treated with eculizumab after testing positive for EAEC; the treatment led to a quick recovery of kidney function and blood markers.
  • This case suggests further research into the effectiveness of eculizumab for non-Shiga toxin-associated HUS is necessary, given the underlying kidney injury and positive results from the treatment.
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Becker muscular dystrophy (BMD) is an X-linked recessive disorder responsible for mild skeletal muscle involvement and variable degree of cardiomyopathy. The characteristics of cardiac phenotype of BMD in childhood remain elusive. Clinical manifestations, genotype, serum biomarkers, and echocardiogram were retrospectively reviewed in BMD patients.

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A Novel Risk Score to Guide the Evaluation of Acute Hematogenous Osteomyelitis in Children.

Pediatrics

January 2024

Division of Emergency Medicine, University Department of Pediatrics, Washington School of Medicine, Seattle Children's Hospital, Seattle, Washington.

Objectives: To identify independent predictors of and derive a risk score for acute hematogenous osteomyelitis (AHO) in children.

Methods: We conducted a retrospective matched case-control study of children >90 days to <18 years of age undergoing evaluation for a suspected musculoskeletal (MSK) infection from 2017 to 2019 at 23 pediatric emergency departments (EDs) affiliated with the Pediatric Emergency Medicine Collaborative Research Committee. Cases were identified by diagnosis codes and confirmed by chart review to meet accepted diagnostic criteria for AHO.

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Objectives: Post-ICU admission cumulative positive fluid balance (PFB) is associated with increased mortality among critically ill patients. We sought to test whether this risk varied across biomarker-based risk strata upon adjusting for illness severity, presence of severe acute kidney injury (acute kidney injury), and use of continuous renal replacement therapy (CRRT) in pediatric septic shock.

Design: Ongoing multicenter prospective observational cohort.

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Contaminant Organism Growth in Febrile Infants at Low Risk for Invasive Bacterial Infection.

J Pediatr

April 2024

Section of Pediatric Emergency Medicine, Departments of Pediatrics and Emergency Medicine, Yale School of Medicine, New Haven, CT.

In this multicenter, cross-sectional, secondary analysis of 4042 low-risk febrile infants, nearly 10% had a contaminated culture obtained during their evaluation (4.9% of blood cultures, 5.0% of urine cultures, and 1.

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Unlabelled: Neuroblastoma is the most common extracranial tumor, accounting for 15% of all childhood cancer-related deaths. The long-term survival of patients with high-risk tumors is less than 40%, and MYCN amplification is one of the most common indicators of poor outcomes. Zika virus (ZIKV) is a mosquito-borne flavivirus associated with mild constitutional symptoms outside the fetal period.

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Article Synopsis
  • The "Early Care (0-3 years) in Duchenne Muscular Dystrophy" meeting aimed to tackle the challenges of diagnosing and caring for young children with DMD and female carriers.
  • Experts discussed issues like diagnostic delays, the lack of guidelines, and the importance of timely interventions such as newborn screening and early corticosteroid therapy.
  • The meeting highlighted the need for better clinical support for families, individualized care plans, and ongoing research into potential treatments for DMD in infants and young boys.
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Kawasaki disease (KD) and Multisystem Inflammatory Syndrome in Children (MIS-C) associated with COVID-19 show clinical overlap and both lack definitive diagnostic testing, making differentiation challenging. We sought to determine how cardiac biomarkers might differentiate KD from MIS-C. The International Kawasaki Disease Registry enrolled contemporaneous KD and MIS-C pediatric patients from 42 sites from January 2020 through June 2022.

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A recurrent ACTA1 amino acid change in mosaic form causes milder asymmetric myopathy.

Neuromuscul Disord

January 2024

Folkhälsan Research Center, 00290 Helsinki, Finland; Department of Medical and Clinical Genetics, Medicum, 00014 University of Helsinki, Finland.

We describe three patients with asymmetric congenital myopathy without definite nemaline bodies and one patient with severe nemaline myopathy. In all four patients, the phenotype had been caused by pathogenic missense variants in ACTA1 leading to the same amino acid change, p.(Gly247Arg).

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Article Synopsis
  • The skeletal dysplasias are a diverse group of genetic conditions impacting bone and cartilage growth, but the role of cytokines in these disorders is not well understood.
  • A study analyzed cytokine levels in 136 children with skeletal dysplasia compared to 275 healthy controls, focusing on 12 specific cytokines across various dysplasia types.
  • Findings revealed significant differences in cytokine expression, with certain cytokines consistently elevated or decreased across all dysplasia cohorts, highlighting particularly high levels in MOPDII cases.
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Novel Compound Heterozygous ZAP70 R37G A507T Mutations in Infant with Severe Immunodeficiency.

J Clin Immunol

December 2023

Department of Microbiology and Immunology, Sidney Kimmel Medical College, Thomas Jefferson University, Philadelphia, USA.

Zeta-chain associated protein kinase 70 kDa (ZAP70) combined immunodeficiency (CID) is an autosomal recessive severe immunodeficiency that is characterized by abnormal T-cell receptor signaling. Children with the disorder typically present during the first year of life with diarrhea, failure to thrive, and recurrent bacterial, viral, or opportunistic infections. To date, the only potential cure is hematopoietic stem cell transplant (HSCT).

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Background And Objectives: Eating disorders (EDs) affect a substantial number of American adolescents, with an increasing number seeking care for EDs during the coronavirus disease 2019 pandemic. We assessed the prevalence and clinical characteristics of adolescents hospitalized with EDs during 2010 to 2022.

Methods: We used data from a national database of 12 children's hospitals (PEDSnet).

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Hematopoietic Bone Marrow Transplant to Treat Systemic EBV-positive T-cell Lymphoma of Childhood.

J Pediatr Hematol Oncol

March 2024

Department of Pathology Division of Pediatric Hematology/Oncology, Nemours Center for Cancer and Blood Disorders, Nemours Children's Hospital-Delaware, Wilmington, DE.

Systemic Epstein-Barr virus-positive T-cell lymphoma of childhood (S-EBV-TCL) is a rare disease for which there is no standard of care. S-EBV-TCL is often associated with hemophagocytic lymphohistiocytosis and is generally thought of on the spectrum of EBV-related disease. For the few reported cases of cure in the literature, hematopoietic stem cell transplant has been required because it is the only treatment that has induced complete remission in patients suffering from EBV-associated T-cell or natural killer cell lymphoproliferative diseases, except hemophagocytic lymphohistiocytosis.

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Chilaiditi sign is defined as the interposition of the colon or small intestine between the liver and the right diaphragm in the absence of symptoms. Chilaiditi syndrome refers to the condition where the Chilaiditi sign is associated with symptoms including abdominal pain. In this series, we present the cases of two pre-pubescent patients with these rare conditions.

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