Blood Transfusion and Survival of Children, Adolescent, and Young Adult Patients with Osteosarcoma: A Multicenter Retrospective Cohort Study.

: Prior studies suggest that blood transfusion may adversely affect the survival of patients with cancer via transfusion-related immunomodulation. The objective of our study is to investigate the association between transfusion during neoadjuvant chemotherapy and survival in children, adolescent, and young adult (CAYA, 39 years old or younger) patients with osteosarcoma. : This is a multicenter retrospective cohort study of patients between 2007 and 2022.

Multiomics dissection of human RAG deficiency reveals distinctive patterns of immune dysregulation but a common inflammatory signature.

Human recombination-activating gene (RAG) deficiency can manifest with distinct clinical and immunological phenotypes. By applying a multiomics approach to a large group of -mutated patients, we aimed at characterizing the immunopathology associated with each phenotype. Although defective T and B cell development is common to all phenotypes, patients with hypomorphic variants can generate T and B cells with signatures of immune dysregulation and produce autoantibodies to a broad range of self-antigens, including type I interferons.

Preservation of the azygos vein versus ligation of the azygos vein during primary surgical repair of congenital esophageal atresia.

Background: Esophageal atresia is one of the most common life-threatening congenital malformations and is defined as an interruption in the continuity of the esophagus with or without fistula to the trachea or bronchi. Definitive treatment is surgical ligation of the fistula if present and esophageal end-to-end anastomosis of the two pouches, thereby reconstructing the continuity of the esophagus. During this procedure, the surgeon may choose to either ligate or preserve the azygos vein, a major draining vein for the esophagus and surrounding structures, but no definitive consensus on the matter exists.

Understanding the Patient Experience with Twice-Nightly Sodium Oxybate Therapy for Narcolepsy: A Social Listening Experiment.

Background/objectives: Narcolepsy is a chronic neurologic disorder associated with substantial challenges that affect the social, emotional, and financial quality-of-life domains. A social listening analysis and structured survey were conducted to better understand the candid perspective of people with narcolepsy (PWN) and their experience with twice-nightly sodium oxybate (SXB).

Methods: To characterize conversations and experiences in narcolepsy communities where SXB was mentioned, a social media analysis was conducted from August 2011 to October 2022.

Novel Inherited N-terminus TAP1 Variants and Severe Clinical Manifestations- Are Genotype-Phenotype Correlations Emerging?

Major histocompatibility complex class I deficiency results from deleterious biallelic variants in TAP1, TAP2, TAPBP, and B2M genes. Only a few patients with variant-curated TAP1 deficiency (TAP1D) have been reported in the literature and the clinical phenotype has been variable with an emphasis on autoimmune and inflammatory complications. We report TAP1D in a Nepalese girl with a severe clinical phenotype with serious viral infections at a very young age.

Therapeutic Plasma Exchange for Fibrinogen-Associated Hyperviscosity: Results of the COPLEX Randomized Controlled Trial.

Background: Therapeutic plasma exchange (TPE) is the primary intervention for treating symptomatic hyperviscosity from hypergammaglobulinemia, yet its efficacy for treating hyperviscosity related to hyperfibrinogenemia is unclear.

Objective: Define the safety and efficacy of TPE for critically ill COVID-19 patients with elevated blood viscosity from hyperfibrinogenemia.

Method: A prospective, randomized controlled trial in critically ill COVID-19 patients at a single US healthcare system.

Sports after single-suture synostosis surgery: a survey of Synostosis Research Group members.

Objective: Patients with a history of surgery for single-suture craniosynostosis (SSC) as an infant often wish to participate in sports later in childhood. However, there are no established guidelines from neurosurgeons and craniofacial surgeons to guide parents in which sports their child should or should not participate. Therefore, this study aimed to evaluate the attitudes and practice patterns of experienced neurosurgeons and craniofacial surgeons regarding the counseling of caregivers of these patients about sports participation.

Controversies in Allergy: If and When to Consider Prophylactic Immunoglobulin Replacement Therapy in Secondary Hypogammaglobulinemia.

Secondary hypogammaglobulinemia, or decreased IgG levels due to reduced production or increased loss caused by medications or underlying conditions, can be associated with increased infection risk. While immunoglobulin replacement therapy (IgRT) is generally accepted as a strategy to help prevent recurrent bacterial infections in SHG, controversy exists as to whether it should be initiated to prevent the first occurrence of infection. This question has been raised particularly in the setting of anti-CD20 therapy, solid organ transplant, and B-cell malignancies and their treatments once IgG levels fall below 300-400 mg/dL.

Hemostatic Outcome Definitions in Pediatric Extracorporeal Membrane Oxygenation: Challenges in Cohorts From Rotterdam (2019-2023) and Melbourne (2016-2022).

Objectives: To determine if a priori standardization of outcome hemostatic definitions alone was adequate to enable useful comparison between two cohorts of pediatric extracorporeal membrane oxygenation (ECMO) patients, managed according to local practice and protocol.

Design: Comparison of two separate prospective cohort studies performed at different centers with standardized outcome definitions agreed upon a priori.

Setting: General and cardiac PICUs at the Royal Children's Hospital (RCH) in Melbourne, Australia, and the Sophia Children's Hospital (SCH) in Rotterdam, The Netherlands.

Allogeneic haematopoietic stem-cell transplantation for children with refractory systemic juvenile idiopathic arthritis and associated lung disease: outcomes from an international, retrospective cohort study.

Background: Systemic juvenile idiopathic arthritis-related lung disease (sJIA-LD) is a severe complication in patients with treatment-refractory systemic juvenile idiopathic arthritis (sJIA). The objective of this study was to evaluate the effect of allogeneic haematopoietic stem-cell transplantation (HSCT) in a cohort of children with sJIA-LD.

Methods: This international, retrospective cohort study was performed in nine hospitals across the USA and Europe in children with sJIA-LD who had received allogeneic HSCT.

Results of a multinational survey on the diagnostic and management practices of catheter-related arterial thrombosis in children and neonates: communication from the ISTH SSC Subcommittee on Pediatric and Neonatal Thrombosis and Hemostasis.

Background: Arterial thrombosis is increasingly recognized in children and is most commonly related to the presence of an arterial catheter. Diagnosis and treatment of arterial thrombosis in children varies widely and consists of commonly available anticoagulants and antiplatelet drugs. No evidence-based guidelines exist for management strategies of catheter related arterial thrombosis (CAT).

Implementation of a pharmacist-driven ketogenic diet protocol at an academic, quaternary pediatric referral center.

In an effort to expedite the publication of articles, AJHP is posting manuscripts online as soon as possible after acceptance. Accepted manuscripts have been peer-reviewed and copyedited, but are posted online before technical formatting and author proofing. These manuscripts are not the final version of record and will be replaced with the final article (formatted per AJHP style and proofed by the authors) at a later time.

Forty-eight-hour cold-stored whole blood in paediatric cardiac surgery: Implications for haemostasis and blood donor exposures.

Background And Objectives: Cold-stored whole blood (CS-WB) in paediatric cardiac surgery is making a resurgence, given its identified benefits compared to conventional blood component therapy (CT).

Study Design And Methods: A single-centre retrospective study was conducted from January 2018 to October 2018 by including children <18 years of age undergoing cardiac surgery requiring cardiopulmonary bypass. ABO-compatible CS-WB from non-directed random donors was leukoreduced with platelet-sparing filters and compared with CT.

Open versus endoscopic surgery with helmet molding therapy in non-syndromic patients with craniosynostosis: an updated systematic review and meta-analysis of clinical outcomes and treatment-related costs.

Objective: There is an ongoing debate regarding the optimal treatment for craniosynostosis as diverse factors influence the election between endoscopic and open surgery. Previous evidence favors endoscopic procedures. However, evidence remains unfulfilled by a limited number of patients and clustered in very few centers worldwide making it difficult to define it as a replicable technique in different populations.

Surgical treatment of neonatal brachial plexus palsy: A cohort study using the Pediatric Health Information System (PHIS) database.

Purpose: This study aims to explore demographic disparities, regional and institutional variations, surgical timing, narcotic use, and management trends in neonatal brachial plexus palsy (NBPP) patients due to limited published literature.

Methods: We conducted a retrospective cohort study using the Pediatric Health Information System (PHIS) database of NBPP patients who underwent surgery within the first 2 years of life. Patients were stratified into two groups based on age at surgery: ≤ 8 months and > 8 months.

Larotrectinib for Newly Diagnosed Infantile Fibrosarcoma and Other Pediatric Fusion-Positive Solid Tumors (Children's Oncology Group ADVL1823).

Purpose: The TRK inhibitor larotrectinib is US Food and Drug Administration approved for fusion-positive solid tumors that lack a satisfactory alternative or have progressed after treatment but has not been systematically studied as a frontline therapy with a defined duration of treatment. ADVL1823 evaluated larotrectinib in patients with newly diagnosed fusion-positive solid tumors with response-adapted duration of therapy and local control.

Methods: Patients received larotrectinib twice daily in 28-day cycles for a predefined duration of treatment, ranging from 6 to 26 cycles depending on response to therapy and surgical resectability.

Bilateral rib-to-pelvis growth-friendly spinal surgery for congenital kyphosis in the child with myelomeningocele delays but does not prevent a definitive procedure.

Purpose: To determine the efficacy of bilateral rib-to-pelvis distraction instrumentation for the growth-friendly surgical treatment of congenital kyphosis in children with myelomeningocele.

Methods: The clinical courses of nine children (five males, four females), mean age 4.3 years (range 1.

Assessing the Clinical Value of 2-h Versus 4-h Gastric Emptying Scintigraphy in Pediatrics: A Systematic Review and Meta-Analysis.

Introduction: The gold-standard diagnostic test for gastroparesis is gastric emptying scintigraphy (GES). Although a 4-h GES is recommended in adult guidelines, no similar guidelines exist in the pediatric population, with many hospitals utilizing a 2-h scan to reduce radiation exposure and save time.

Methods: We performed a systematic review and meta-analysis to evaluate differences in the diagnosis of gastroparesis during 2-h versus 4-h GES.

Headaches and adolescents: why so many failures in their management.

Unlabelled: The management of headaches in children and adolescents is still a challenge, with patients experiencing pain for years and polypharmacy. We reviewed the medical history of 31 patients referred to our pain clinic for chronic headaches between April 2023 and April 2024. There were more female than male patients (73%).

Congenital T cell activation impairs transitional to follicular B cell maturation in humans.

CTLA4-deficient patients exhibit profound humoral immune dysfunction, yet the basis for the B cell defect is not known. We observed a marked reduction in transitional to follicular B cell development in CTLA4-deficient patients, correlating with decreased CTLA4 function in regulatory T cells, increased CD40L levels in effector CD4+ T cells, and increased mTORC1 signaling in transitional B cells. Treatment of transitional B cells with CD40L was sufficient to induce mTORC1 signaling and inhibit follicular B cell maturation in vitro.

Inborn errors of immunity reveal molecular requirements for generation and maintenance of human CD4 IL-9-expressing cells.

Background: CD4 T cells play essential roles in adaptive immunity. Distinct CD4 T-cell subsets-T1, T2, T17, T22, T follicular helper, and regulatory T cells-have been identified, and their contributions to host defense and immune regulation are increasingly well defined. IL-9-producing T9 cells were first described in 2008 and appear to play both protective and pathogenic roles in human immunity.