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.

Comparative analysis of 2 approaches to monitor countries' progress towards full and equal access to sexual and reproductive health care, information, and education in 75 countries: An observational validation study.

Background: Sustainable Development Goal (SDG) Indicator 5.6.2 is the "Number of countries with laws and regulations that guarantee full and equal access to women and men aged 15 years and older to sexual and reproductive health care, information, and education.

Predictors of Physician Agreement With Radiologist-Recommended Follow-up Imaging.

Objective: Although recommendations for additional imaging are common in radiology reports, completion of follow-up imaging does not always occur, which could reflect disagreement between radiologist and referring provider. We assessed how frequently referring providers agree with radiologists' follow-up recommendations, reasons for disagreement, and factors associated with radiologist-referring provider agreement.

Methods: This institutional review board-exempt, retrospective study was performed at a large academic center.

Patient Photograph Association With Radiologist Recommendations for Additional Imaging.

Objective: Assess whether display of a patient photograph in the electronic health record (EHR) alongside head and neck CT or MRI radiology examinations is associated with recommendations for additional imaging (RAI) and whether self-reported race modifies that association.

Methods: This multi-institution health care system retrospective observational study from June 1, 2021 to May 31, 2022 included all patients with a head/neck CT or MRI report. We investigated association of photograph with RAIs using mixed-effects models adjusting for age, sex, complexity score, race, and area deprivation index while conditioning on patient and radiologist.

Effect of rabbit ATG PK on outcomes after TCR-αβ/CD19-depleted pediatric haploidentical HCT for hematologic malignancy.

We hypothesized that the inferior disease-free survival (DFS) seen in older patients who underwent αβ-T-cell/CD19-depleted (AB-TCD) haploidentical hematopoietic cell transplantation (HCT) for hematologic malignancies is caused by excessive exposure to rabbit antithymocyte globulin (rATG; Thymoglobulin). Between 2015 and 2023, 163 patients with a median age of 13 years (range, 0.4-27.

Relevance of lymphocyte proliferation to PHA in severe combined immunodeficiency (SCID) and T cell lymphopenia.

Severe combined immunodeficiency (SCID) is characterized by a severe deficiency in T cell numbers. We analyzed data collected (n = 307) for PHA-based T cell proliferation from the PIDTC SCID protocol 6901, using either a radioactive or flow cytometry method. In comparing the two groups, a smaller number of the patients tested by flow cytometry had <10% of the lower limit of normal proliferation as compared to the radioactive method (p = 0.

Screening for Asymptomatic Osteonecrosis of the Hip in Systemic Lupus Erythematous: A Systematic Review and Meta-Analysis of MRI-Based Prevalence.

. This paper aims to estimate asymptomatic hip osteonecrosis prevalence in SLE patients using MRI examination and to determine the prevalence among higher risk subpopulations. .

Recommendations for Additional Imaging on Head and Neck Imaging Examinations: Interradiologist Variation and Associated Factors.

A paucity of relevant guidelines may lead to pronounced variation among radiologists in issuing recommendations for additional imaging (RAI) for head and neck imaging. The purpose of this article was to explore associations of RAI for head and neck imaging examinations with examination, patient, and radiologist factors and to assess the role of individual radiologist-specific behavior in issuing such RAI. This retrospective study included 39,200 patients (median age, 58 years; 21,855 women, 17,315 men, 30 with missing sex information) who underwent 39,200 head and neck CT or MRI examinations, interpreted by 61 radiologists, from June 1, 2021, through May 31, 2022.

Allogeneic hematopoietic cell transplantation is effective for p47phox chronic granulomatous disease: A Primary Immune Deficiency Treatment Consortium study.

Background: P47phox (neutrophil cytosolic factor-1) deficiency is the most common cause of autosomal recessive chronic granulomatous disease (CGD) and is considered to be associated with a milder clinical phenotype. Allogeneic hematopoietic cell transplantation (HCT) for p47phox CGD is not well-described.

Objectives: We sought to study HCT for p47phox CGD in North America.

Actionability of Recommendations for Additional Imaging in Head and Neck Radiology.

Purpose: The aims of this study were to measure the actionability of recommendations for additional imaging (RAIs) in head and neck CT and MRI, for which there is a near complete absence of best practices or guidelines; to identify the most common recommendations; and to assess radiologist factors associated with actionability.

Methods: All head and neck CT and MRI radiology reports across a multi-institution, multipractice health care system from June 1, 2021, to May 31, 2022, were retrospectively reviewed. The actionability of RAIs was scored using a validated taxonomy.

Factors Associated With Timeliness and Equity of Access to Outpatient MRI Examinations.

Objective: The role of MRI in guiding patients' diagnosis and treatment is increasing. Therefore, timely MRI performance prevents delays that can impact patient care. We assessed the timeliness of performing outpatient MRIs using the socio-ecological model approach and evaluated multilevel factors associated with delays.

Lactoferrin intake from maternal milk during the neonatal hospitalization and early brain development among preterm infants.

Background: Lactoferrin is an immuno-modulatory nutrient in human milk that may be neuroprotective.

Methods: In 36 infants born <32 weeks' gestation, we sampled human milk at 14 and 28 days of chronologic age and measured lactoferrin by electrochemiluminescence multiplex immunoassay. Using 3T quantitative brain magnetic resonance imaging scans obtained at term equivalent, we estimated total and regional brain volumes.

Financial Impact of a Radiology Safety Net Program for Resolution of Clinically Necessary Follow-up Imaging Recommendations.

Objective: Health care safety net (SN) programs can potentially improve patient safety and decrease risk associated with missed or delayed follow-up care, although they require financial resources. This study aimed to assess whether the revenue generated from completion of clinically necessary recommendations for additional imaging (RAI) made possible by an IT-enabled SN program could fund the required additional labor resources.

Methods: Clinically necessary RAI generated October 21, 2019, to September 24, 2021, were tracked to resolution as of April 13, 2023.

Health system quality and COVID-19 vaccination: a cross-sectional analysis in 14 countries.

The social and behavioural determinants of COVID-19 vaccination have been described previously. However, little is known about how vaccinated people use and rate their health system. We used surveys conducted in 14 countries to study the health system correlates of COVID-19 vaccination.

Primary health care in practice: usual source of care and health system performance across 14 countries.

Primary health care (PHC) is central to attainment of the Sustainable Development Goals, yet comparable cross-country data on key aspects of primary care have not been widely available. This study analysed data from the People's Voice Survey, which was conducted in 2022 and 2023 in 14 countries. We documented usual source of care across countries and examined associations of usual source of care with core PHC services, quality ratings, and health system confidence.

The path to universal health coverage in five African and Asian countries: examining the association between insurance status and health-care use.

Despite major efforts to achieve universal health coverage (UHC), progress has lagged in many African and Asian countries. A key strategy pursued by many countries is the use of health insurance to increase access and affordability. However, evidence on insurance coverage and on the association between insurance and UHC is mixed.

User-reported quality of care: findings from the first round of the People's Voice Survey in 14 countries.

High-quality care is essential for improving health outcomes, although many health systems struggle to maintain good quality. We use data from the People's Voice Survey-a nationally representative survey conducted in 14 high-income, middle-income, and low-income countries-to describe user-reported quality of most recent health care in the past 12 months. We described ratings for 14 measures of care competence, system competence, and user experience and assessed the relationship between visit quality factors and user recommendation of the facility.

Measuring people's views on health system performance: Design and development of the People's Voice Survey.

Todd Lewis and co-authors discuss development and use of the People's Voice Survey for health system assessment.

Posttransplantation late complications increase over time for patients with SCID: A Primary Immune Deficiency Treatment Consortium (PIDTC) landmark study.

Background: The Primary Immune Deficiency Treatment Consortium (PIDTC) enrolled children in the United States and Canada onto a retrospective multicenter natural history study of hematopoietic cell transplantation (HCT).

Objective: We investigated outcomes of HCT for severe combined immunodeficiency (SCID).

Methods: We evaluated the chronic and late effects (CLE) after HCT for SCID in 399 patients transplanted from 1982 to 2012 at 32 PIDTC centers.

Intestinal microbiome and metabolome signatures in patients with chronic granulomatous disease.

Background: Chronic granulomatous disease (CGD) is caused by defects in any 1 of the 6 subunits forming the nicotinamide adenine dinucleotide phosphate oxidase complex 2 (NOX2), leading to severely reduced or absent phagocyte-derived reactive oxygen species production. Almost 50% of patients with CGD have inflammatory bowel disease (CGD-IBD). While conventional IBD therapies can treat CGD-IBD, their benefits must be weighed against the risk of infection.

CRISPR-Cas9 Editing of the and Promoters to Treat Sickle Cell Disease.

Background: Sickle cell disease is caused by a defect in the β-globin subunit of adult hemoglobin. Sickle hemoglobin polymerizes under hypoxic conditions, producing deformed red cells that hemolyze and cause vaso-occlusion that results in progressive organ damage and early death. Elevated fetal hemoglobin levels in red cells protect against complications of sickle cell disease.