Improvements in Health-Related Quality of Life in Patients with Transfusion-Dependent β-Thalassemia After Exagamglogene Autotemcel.

Transfusion-dependent β-thalassemia (TDT) can have negative impacts on a patient's health-related quality of life (HRQoL). Exagamglogene autotemcel (exa-cel) is a one-time, ex vivo CRISPR-Cas9 gene-edited cell therapy for TDT shown in a Phase 3 clinical trial to result in transfusion independence in most participants. Here, we describe changes in patient-reported outcome (PRO) measures following exa-cel infusion in 54 participants (n=35 adults; n=19 adolescents) who had ≥16 months of follow-up.

Longitudinal analysis of humoral and cellular immunity in SARS-CoV-2 exposed families.

Identification of previous SARS-CoV-2 infection typically relies on serology, yet T-cells play a key role in the adaptive immune response against SARS-CoV-2. Here, we investigated in parallel the SARS-CoV-2-specific as well as endemic human coronavirus-specific humoral and cross-reactive cellular responses in children and adults. We analyzed clinical data and blood samples from a family cohort of 96 children and 144 adults at 3-4 and 11-12 months after their first contact with SARS-CoV-2.

Bridging the Gap: Improving Data Sharing Practices in Surgical Research.

Introduction: Data sharing is critical for improving patient outcomes and ensuring research transparency. However, adherence to the International Committee of Medical Journal Editors guidelines requiring data-sharing statements (DSS) in clinical trials remains inconsistent within surgical research.

Methods: A systematic review and cross-sectional analysis of 1094 articles from the top h-5 indexed surgery journals (2020-2023) was conducted.

GPOH Guidelines for Diagnosis and First-line Treatment of Patients with Neuroblastic Tumors, update 2025.

The clinical course of neuroblastoma is more heterogeneous than any other malignant disease. Many low-risk patients experience regression after limited or even no chemotherapy. However, more than half of high-risk patients die from disease despite intensive multimodal treatment.

Deletion of the HLA-B Gene in One of the Inherited Haplotypes in a Northern European Family.

Targeted next generation sequencing-based HLA typing of a 17-year-old female transplant patient showed homozygosity for the HLA-B allele. The segregation analysis of HLA haplotypes of family members only allowed the conclusion that the B-allele was deleted in the haplotype inherited from the father and accordingly paternal grandfather, resulting in false homozygous genotyping. The subsequent whole-genome sequencing of the patient and her father confirmed an approximately 85 kb deletion at 6p21.

Hematopoietic stem cell transplantation in a newborn suffering from severe combined immunodeficiency and severe hemophilia A: a case report and review of the literature.

Background: Severe combined immunodeficiency (SCID) and severe hemophilia A are 2 rare and potentially life-threatening congenital diseases. The coincidence of these diseases has not been reported so far.

Key Clinical Question: We present the first case of a newborn with both diseases.

Amygdala Structure and Function: Association With Transdiagnostic Trauma Severity in Anxiety and Mood Disorder Patients.

Reductions in both the size of the amygdala and functional activity during emotional processing have been independently associated with trauma exposure and severity, raising the question of whether reduced volume prompts reduced functional activation. In this multimodal assessment, the relationship between amygdala structure and function was investigated in mood and anxiety patients to determine their covariation and their relationship to trauma magnitude. Overall, amygdala volume and functional emotional reactivity were unrelated, with smaller volumes and reduced emotional reactivity each independently predicting trauma magnitude for women, and mediation analysis did not support a hypothesis that the relationship between reduced functional activity and trauma severity depends on amygdala volume.

High Incidence and Impact of Suspected Exocrine Pancreatic Insufficiency in Patients Post-Hematopoietic Stem Cell Transplantation: A Single-Center Prospective Observational Study.

Exocrine pancreatic insufficiency (EPI) is suspected but remains understudied in immunosuppressed conditions such as post-hematopoietic stem cell transplantation (HSCT). This prospective observational study aimed to investigate the incidence, impact, and risk factors of EPI in a cohort of 83 pediatric and young adult patients who underwent allogeneic HSCT at Charité - Universitätsmedizin Berlin between 2020 and 2023. Fecal pancreatic elastase (PE) measurements and transabdominal ultrasound were utilized to evaluate pancreatic function over a one-year period.

Multinational retrospective analysis of bridging therapy prior to chimeric antigen receptor t cells for relapsed/refractory acute lymphoblastic leukemia in children and young adults.

Anti-CD19 chimeric antigen receptor T cells (CAR) are a well-established treatment option for children and young adults suffering from relapsed/refractory B-lineage acute lymphoblastic leukemia. Bridging therapy is used to control disease prior to start of lymphodepletion before CAR infusion and thereby improve efficacy of CAR therapy. However, the effect of different bridging strategies on outcome, side effects and response to CAR therapy is still poorly understood.

Long-Term Outcomes and Quality of Life of High-Risk Neuroblastoma Patients Treated with a Multimodal Treatment Including Anti-GD2 Immunotherapy: A Retrospective Cohort Study.

Background: The incorporation of anti-GD2 antibodies such as ch14.18/SP2/0 into the multimodal treatment of high-risk neuroblastoma (HR-NB) patients has improved their outcomes. As studies assessing the long-term outcomes, long-term sequelae, and health-related quality of life (HRQoL) of this treatment are limited, this retrospective analysis aimed to explore these.

Everolimus with or without Mycophenolate Mofetil for Graft-versus-Host Disease Prophylaxis after Hematopoietic Stem Cell Transplantation in Children with Acute Kidney Injury: A Single-Center Retrospective Analysis.

Hematopoietic stem cell transplantation (HSCT) serves as a therapeutic intervention for various pediatric diseases. Acute and chronic graft-versus-host disease (GVHD) are decisive determinants of successful allogeneic HSCT. The immunosuppressive agent cyclosporin A (CsA) is most often used to prevent GVHD in pediatric patients, but it is known to be nephrotoxic.

ClearScope: a fully integrated light sheet theta microscope for sub-cellular resolution imaging without lateral size constraints.

Three-dimensional (3D) imaging of cleared intact brains of animal models and large human and non-human primate postmortem brain specimens is important for understanding the physiological neural network connectivity patterns and the pathological alterations underlying neuropsychiatric and neurological disorders. Light-sheet microscopy has emerged as a highly effective imaging modality for rapid high-resolution imaging of large cleared samples. However, the orthogonal arrangements of illumination and detection optics in light sheet microscopy limits the size of specimen that can be imaged.

Irinotecan and temozolomide in combination with dasatinib and rapamycin versus irinotecan and temozolomide for patients with relapsed or refractory neuroblastoma (RIST-rNB-2011): a multicentre, open-label, randomised, controlled, phase 2 trial.

Background: Neuroblastoma is the most common extracranial solid tumour in children. Relapsed or refractory neuroblastoma is associated with a poor outcome. We assessed the combination of irinotecan-temozolomide and dasatinib-rapamycin (RIST) in patients with relapsed or refractory neuroblastoma.

Immune reconstitution after transplantation of autologous peripheral stem cells in children: a comparison between CD34+ selected and nonmanipulated grafts.

Background And Aims: High-dose chemotherapy (HDC) followed by autologous stem cell transplantation (ASCT) improves the prognosis in pediatric patients with several solid tumors and lymphomas. Little is known about the reconstitution of the immune system after ASCT and the influence of CD34+ cell selection on the reconstitution in pediatric patients.

Methods: Between 1990 and 2001, 94 pediatric patients with solid tumors and lymphomas received autologous CD34+ selected or unmanipulated peripheral stem cells after HDC.

Adenovirus- and cytomegalovirus-specific adoptive T-cell therapy in the context of hematologic cell transplant or HIV infection - A single-center experience.

Background: Reactivation of viral infections, in particular cytomegalovirus (CMV) and adenovirus (ADV), cause morbidity and non-relapse-mortality in states of immune deficiency, especially after allogeneic hematopoietic cell transplantation (allo-HCT). Against the background of few available pharmacologic antiviral agents, limited by toxicities and resistance, adoptive transfer of virus-specific T-cells (VST) is a promising therapeutic approach.

Methods: We conducted a single-center retrospective analysis of adult patients treated with ADV- or CMV-specific T-cells in 2012-2022.