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Developmental and epileptic encephalopathies (DEE) are rare, often monogenic neurodevelopmental conditions. Most affected individuals have refractory seizures. All have multiple severe impairments which can be as life-limiting as or more limiting than the seizures themselves. Mechanism- and gene-targeted therapies for these individually rare, genetic conditions hold hope for treatment, amelioration of disease expression, and even cure.
Onco-fetal reprogramming of the tumor ecosystem induces fetal developmental signatures in the tumor microenvironment, leading to immunosuppressive features. Here, we employed single-cell RNA sequencing, spatial transcriptomics and bulk RNA sequencing to delineate specific cell subsets involved in hepatocellular carcinoma relapse and response to immunotherapy.
People having close contact with drug-resistant tuberculosis (DR-TB) patients are at increased risk of contracting and developing the disease. However, no comprehensive review has been undertaken to estimate the burden of DR-TB among contacts of DR-TB patients. Therefore, the current systematic review will quantify the prevalence and incidence of DR-TB among contacts of DR-TB patients.
This study investigates the interaction between caregiver burden, mutuality, and family resilience in colorectal cancer management, and determines whether mutuality affects the effect of caregiver burden on family resilience.
Secondary antibiotic prophylaxis reduces progression of latent rheumatic heart disease (RHD) but not all children benefit. Improved risk stratification could refine recommendations following positive screening. We aimed to evaluate the performance of a previously developed echocardiographic risk score to predict mid-term outcomes among children with latent RHD.
This 14-color, 13-antibody optimized multicolor immunofluorescence panel (OMIP) was designed for deep profiling of neutrophil subsets in various types of human samples to contextualize neutrophil plasticity in a range of healthy and diseased states. Markers present in the OMIP allow the profiling of neutrophil subsets associated with ontogeny, migration, phagocytosis capacity, granule release, and immune modulation.
Rheumatic heart disease is the largest contributor to cardiac-related mortality in children worldwide. Outcomes in endemic settings after its antecedent illness, acute rheumatic fever, are not well understood. We aimed to describe 3-5 year mortality, acute rheumatic fever recurrence, changes in carditis, and correlates of mortality after acute rheumatic fever.
The eradication of smallpox is considered one of the greatest achievements of humankind, thanks to vaccination. The widespread availability of childhood vaccines has substantially reduced childhood morbidity and mortality. Devastating infections, such as polio, have almost disappeared due to vaccination. In 2021, it was estimated that vaccination against ten selected pathogens will have averted 69 million deaths between 2000 and 2030. Increases in vaccine coverage and introduction of additional vaccines should reduce lifetime mortality by 72% in the 2019 birth cohort. However, access to vaccines that prevent life-threatening and disabling infectious diseases remains unequal.
Human milk is rich in immuno-modulatory factors that have the potential to shape immune development and influence allergy risk in children. In this article, we describe how breast milk may contribute to making the infant less prone to developing allergies.
Genomic information is increasingly used to inform medical treatments and manage future disease risks. However, any personal and societal gains must be carefully balanced against the risk to individuals contributing their genomic data. Expanding our understanding of actionable genomic insights requires researchers to access large global datasets to capture the complexity of genomic contribution to diseases.