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Research

Presence of onco-fetal neighborhoods in hepatocellular carcinoma is associated with relapse and response to immunotherapy

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. 

Research

Cases of trisomy 21 and trisomy 18 among historic and prehistoric individuals discovered from ancient DNA

Aneuploidies, and in particular, trisomies represent the most common genetic aberrations observed in human genetics today. To explore the presence of trisomies in historic and prehistoric populations we screen nearly 10,000 ancient human individuals for the presence of three copies of any of the target autosomes. We find clear genetic evidence for six cases of trisomy 21 (Down syndrome) and one case of trisomy 18 (Edwards syndrome), and all cases are present in infant or perinatal burials.

Research

Statistical modelling under differential privacy constraints: a case study in fine-scale geographical analysis with Australian Bureau of Statistics TableBuilder data

Consistent with the principles of differential privacy protection, the Australian Bureau of Statistics artificially perturbs all count data from the Australian Census prior to its release to researchers through the TableBuilder platform. This perturbation involves the addition of random noise to every non-zero cell count followed by the suppression of small values to zero.

Research

The moral domain in peer relationships: opportunities for interventions to prevent bullying

Previous research has focused on identifying the association between moral dimension and bullying behavior, with an emphasis on better understanding the complex processes that children and adolescents trigger during decision-making in immoral situations. However, advances in research on morality and bullying have not been paralleled by the design of intervention programs that promote moral competence. The aim of this chapter is to analyze the moral dimension as a key intervention in the design of holistic models for preventing bullying and promoting defending.

Research

A Multisource Process Evaluation of a Community-Based Healthy Lifestyle Programme for Child and Adolescent Obesity †

Whānau Pakari is a healthy lifestyle assessment and intervention programme for children and adolescents with obesity in Taranaki (Aotearoa/New Zealand), which, in this region, replaced the nationally funded Green Prescription Active Families (GRxAF) programme. 

Research

Participant and caregiver perspectives on health feedback from a healthy lifestyle check

The usual output following health consultations from paediatric services is a clinical letter to the referring professional or primary care provider, with a copy sent to the patient's caregiver. There is little research on how patients and caregivers perceive the letter content.

Research

An evaluation of GPT models for phenotype concept recognition

Clinical deep phenotyping and phenotype annotation play a critical role in both the diagnosis of patients with rare disorders as well as in building computationally-tractable knowledge in the rare disorders field.

Research

Morbidity of Scabies in Resource-Limited Countries: Rheumatic Heart Disease (RHD) and Post-Streptococcal Glomerulonephritis (APSGN)

Scabies is one of the world’s most prevalent diseases, with approximately 147 million cases at any one time and an estimated annual incidence of 455 million new episodes. Although Group A streptococcal (GAS) pharyngitis has long been implicated in the pathogenesis of acute rheumatic fever (ARF) and subsequent rheumatic heart disease (RHD), impetigo caused by GAS has recently been postulated as a link between scabies and the pathogenesis of ARF.

Research

Research opportunities for the primary prevention and management of acute rheumatic fever and rheumatic heart disease: a National Heart, Lung, and Blood Institute workshop report

Primary prevention of acute rheumatic fever (ARF) and rheumatic heart disease (RHD) encompasses the timely diagnosis and adequate treatment of the superficial group A Streptococcus (GAS) infections pharyngitis and impetigo. GAS is the only known inciting agent in the pathophysiology of the disease.

Research

Intravascular Tumor Extension and Pulmonary Tumor Embolism in Children With Solid Malignancies: Is There a Role for Inferior Vena Cava Filters?

Intravascular tumor extension is an uncommon complication of solid malignancies that, when present in the inferior vena cava (IVC), can result in fatal pulmonary tumor embolism. Currently, neoadjuvant chemotherapy and surgery are the mainstays of treatment; however, there are no consensus guidelines for management.