HLH and Recurrent EBV Lymphoma as the presenting manifestation of MAGT1 Deficiency: A Systematic Review of the Expanding Disease Spectrum.

Magnesium transporter 1 (MAGT1) gene loss-of-function variants lead to X-linked MAGT1 deficiency with increased susceptibility to EBV infection and N-glycosylation defect (XMEN), a condition with a variety of clinical and immunological effects. In addition, MAGT1 deficiency has been classified as a congenital disorder of glycosylation (CDG) due to its unique role in glycosylation of multiple substrates including NKG2D, necessary for viral protection. Due to the predisposition for EBV, this etiology has been linked with hemophagocytic lymphohistiocytosis (HLH), however only limited literature exists. Here we present a complex case with HLH and EBV-driven classic Hodgkin lymphoma (cHL) as the presenting manifestation of underlying immune defect. However, the patient's underlying immunodeficiency was not identified until his second recurrence of Hodgkin disease, recurrent episodes of Herpes Zoster, and after he had undergone autologous hematopoietic stem cell transplant (HSCT) for refractory Hodgkin lymphoma. This rare presentation of HLH and recurrent lymphomas without some of the classical immune deficiency manifestations of MAGT1 deficiency led us to review the literature for similar presentations and to report the evolving spectrum of disease in published literature. Our systematic review showcased that MAGT1 predisposes to multiple viruses (including EBV) and adds risk of viral-driven neoplasia. The roles of MAGT1 in the immune system and glycosylation were highlighted through the multiple organ dysfunction showcased by the previously validated Immune Deficiency and Dysregulation Activity (IDDA2.1) score and CDG-specific Nijmegen Pediatric CDG Rating Scale (NPCRS) score for the patient cohort in the systematic review.

Impact of Antegrade Pulmonary Blood Flow as Patients Progress Through Single-Ventricle Palliations.

BACKGROUND: The impact of antegrade pulmonary blood flow (APBF) during single-ventricle (SV) palliation continues to be debated. We sought to assess its impact on the hemodynamic profile and the short- and long-term outcomes of patients progressing through stages of SV palliation. METHODS: A retrospective single-center study was conducted of SV patients who underwent surgery between January 2010 and December 2020. Patients with APBF were matched to those with no APBF by a propensity score based on body surface area, sex, and type of systemic ventricle. Analysis was performed using appropriate statistics with a significance level of P = .05. RESULTS: Sixty-three patients with APBF were matched with 95 patients with no APBF. At the pre-stage 2 catheterization, APBF patients had a larger left pulmonary artery diameter (z score, 0.1 vs -0.8; P < .042). Patients with APBF had shorter cardiopulmonary bypass time (57.0 vs 79.0 minutes), shorter duration of mechanical ventilation (14.1 vs 17.4 hours), and shorter hospital length of stay (5.0 vs 7.0 days) at stage 2 palliation (P < .05). In the multivariable Cox regression analysis, patients with hypoplastic pulmonary arteries (z scores < -2; adjusted hazard ratio, 9.17) and patients with chromosomal abnormalities/genetic syndrome (adjusted hazard ratio, 4.03) were at increased risk for poor outcomes (P < .05). During the follow-up period, there was no significant difference in risk of the composite poor outcome and long-term survival between groups. CONCLUSIONS: SV patients with APBF had shorter cardiopulmonary bypass time, duration of mechanical ventilation, and hospital length of stay after stage 2 palliation. Patients with hypoplastic pulmonary arteries or chromosomal abnormalities/genetic syndromes had increased risk for poor outcomes. Maintaining APBF has better short-term outcomes, but there are no long-term hemodynamic or survival benefits.

A tabletop school bus rollover: Connecticut-wide drills to build pediatric disaster preparedness and promote a novel hospital disaster readiness checklist.

OBJECTIVE: To assess emergency medical services (EMS) and hospital disaster plans and communication and promote an integrated pediatric disaster response in the state of Connecticut, using tabletop exercises to promote education, collaboration, and planning among healthcare entities. DESIGN: Using hospital-specific and national guidelines, a disaster preparedness plan consisting of pediatric guidelines and a hospital checklist was created by The Connecticut Coalition for Pediatric Disaster Preparedness. SETTING: Five school bus rollover tabletop exercises were conducted, one in each of Connecticut's five EMS regions. Action figures and playsets were used to depict patients, healthcare workers, vehicles, the school, and the hospital. PARTICIPANTS: EMS personnel, nurses, physicians and hospital administrators. INTERVENTION: Participants had a facilitated debriefing of the EMS and prehospital response to disasters, communication among prehospital organizations, public health officials, hospitals, and schools, and surge capacity, capability, and alternate care sites. A checklist was completed for each exercise and was used with the facilitated debriefing to generate an afteraction report. Additionally, each participant completed a postexercise survey. MAIN OUTCOME MEASURES: Each after-action report and postexercise survey was compared to established guidelines to address gaps in hospital specific pediatric readiness. RESULTS: Exercises occurred at five hospitals, with inpatient capacity ranging 77-1,592 beds, and between 0 and 221 pediatric beds. There were 27 participants in the tabletop exercises, and 20 complete survey responses for analysis (74 percent). After the exercises, pediatric disaster preparedness aligned with coalition guidelines. However, methods of expanding surge capacity and methods of generating surge capacity and capability varied (p < 0.031). CONCLUSION: Statewide tabletop exercises promoted coalition building and revealed gaps between actual and ideal practice. Generation of surge capacity and capability should be addressed in future disaster education.