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Research

ADR3, a next generation i-body to human RANKL, inhibits osteoclast formation and bone resorption

Osteoporosis is a chronic skeletal condition characterized by low bone mass and deteriorated microarchitecture of bone tissue and puts tens of millions of people at high risk of fractures. New therapeutic agents like i-bodies, a class of next-generation single-domain antibodies, are needed to overcome some limitations of conventional treatments.

Research

Single-cell transcriptomic and spatial landscapes of the developing human pancreas

Current differentiation protocols have not been successful in reproducibly generating fully functional human beta cells in vitro, partly due to incomplete understanding of human pancreas development. Here, we present detailed transcriptomic analysis of the various cell types of the developing human pancreas, including their spatial gene patterns. We integrated single-cell RNA sequencing with spatial transcriptomics at multiple developmental time points and revealed distinct temporal-spatial gene cascades.

Research

Rare disease education in Europe and beyond: time to act

People living with rare diseases (PLWRD) still face huge unmet needs, in part due to the fact that care systems are not sufficiently aligned with their needs and healthcare workforce (HWF) along their care pathways lacks competencies to efficiently tackle rare disease-specific challenges. Level of rare disease knowledge and awareness among the current and future HWF is insufficient.

Research

International links between Streptococcus pneumoniae vaccine serotype 4 sequence type (ST) 801 in Northern European shipyard outbreaks of invasive pneumococcal disease

Pneumococcal disease outbreaks of vaccine preventable serotype 4 sequence type (ST)801 in shipyards have been reported in several countries. We aimed to use genomics to establish any international links between them.

Research

Antimicrobial susceptibility testing profiles of ESBL-producing Enterobacterales isolated from hospital and community adult patients in Blantyre, Malawi

There is a paucity of data on antimicrobial resistance (AMR) in Malawi. Here we present a study of AMR of extended-spectrum β-lactamases-producing Enterobacterales (ESBL-E) isolated from hospital and community settings in Blantyre, Malawi.

Research

Quantifying the effectiveness of betaherpesvirus-vectored transmissible vaccines

Transmissible vaccines have the potential to revolutionize how zoonotic pathogens are controlled within wildlife reservoirs. A key challenge that must be overcome is identifying viral vectors that can rapidly spread immunity through a reservoir population.

Research

Personal network inference unveils heterogeneous immune response patterns to viral infection in children with acute wheezing

Human rhinovirus (RV)-induced exacerbations of asthma and wheeze are a major cause of emergency room presentations and hospital admissions among children. Previous studies have shown that immune response patterns during these exacerbations are heterogeneous and are characterized by the presence or absence of robust interferon responses.

Research

Magic Hats and Teddy Bear picnics: Language and visuospatial lateralisation tasks for children

The behavioural outcomes associated with atypical cerebral lateralization during the early stages of cognitive development is an interesting research venture. However, there are few tasks for assessing lateralization in young children. The current study describes the Magic Hat task and the Teddy Bear Picnic task, which were designed to measure the lateralization of language and visuospatial attention, respectively, in children as young as three years old.

Research

Spitz Melanoma of Childhood With A Novel Promoter Hijacking Anaplastic Lymphoma Kinase (C2orf42-ALK) Rearrangement

We present the case of a prepubescent man of African descent who developed a spitzoid melanocytic proliferation showing evidence of a novel promoter hijacking ALK-C2orf42 rearrangement, with atypical histology, clinically apparent metastatic disease, and abnormal cytogenetic findings, representing a rare genuine case of "Spitz melanoma of childhood."

Research

Platelets after burn injury–hemostasis and beyond

Burn injuries are common and often life-threatening trauma. With this trauma comes an interruption of normal hemostasis, with distinct impacts on platelets.