PTEN mutation occurs in a variety of aggressive cancers and is associated with poor patient outcomes. Recent studies have linked mutational loss of PTEN to reduced RAD51 expression and function, a key factor involved in the homologous recombination (HR) pathway. However, these studies remain controversial, as they fail to establish a definitive causal link to RAD51 expression that is PTEN-dependent, while other studies have not been able to recapitulate the relationship between the PTEN expression and the RAD51/HR function. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• October 2020

Copeptin is a surrogate marker for arginine vasopressin (AVP) release in response to hyperosmolal stimuli such as diabetic ketoacidosis (DKA). The objective of this work is to characterize kinetics of copeptin and osmolality, and their dynamic relationship during rehydration and insulin therapy in children with type 1 diabetes (T1D) and DKA. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• November 2020

To investigate the prevalence of, and associations between, prenatal and perinatal risk factors and developmental vulnerability in twins at age 5. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• October 2020

While individual and family factors behind students’ school absenteeism are well-researched, fewer studies have addressed school climate factors. This study investigated the association between school climate in Swedish schools and students’ absenteeism. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2020
• November 2020

This systematic review aimed to identify the most important social, environmental, biological, and/or genetic risk factors for intellectual disability. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2022
• August 2022

Inguinal hernia surgery is one of the most common electively performed surgeries in infants. The common nature of inguinal hernia combined with the high-risk population involving a predominance of preterm infants makes this a particular area of interest for those concerned with their perioperative care. Despite a large volume of literature in the area of infant inguinal hernia surgery, there remains much debate amongst anesthetists, surgeons and neonatologists regarding the optimal perioperative management of these patients. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• July 2023

COVID-19 forced healthcare systems to make unprecedented changes in clinical care processes. The authors hypothesized that the COVID-19 pandemic adversely impacted timely access to care, perioperative processes, and clinical outcomes for pediatric patients undergoing primary appendectomy. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• July 2023

Myeloperoxidase is released by neutrophils in inflamed tissues. MPO oxidizes chloride, bromide, and thiocyanate to produce hypochlorous acid, hypobromous acid, and hypothiocyanous acid, respectively. These oxidants are toxic to pathogens, but may also react with host cells to elicit biological activity and potential toxicity. In cystic fibrosis and related diseases, increased neutrophil inflammation leads to increased airway MPO and airway epithelial cell exposure to its oxidants. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• Jun 2023

Advances in screening and diagnostics have changed the way in which we identify and diagnose congenital anomalies. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023

Healthy Environments And Lives (HEAL) is the Australian national research network established to support improvements to health, the Australian health system, and the environment in response to the unfolding climate crisis. The HEAL Network comprises researchers, community members and organisations, policymakers, practitioners, service providers, and other stakeholders from diverse backgrounds and sectors. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• July 2023

The way the immune system operates differs between males and females. This is due to both differential expression of immune-related genes from the sex chromosomes as well as the immune modulatory properties of sex hormones. Together, these effects contribute to a skewed prevalence of disease and disease course between males and females, including allergic-, infectious-, autoimmune-, and cancerous disease. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• July 2023

In children, the majority of cases are self-limiting and thus many paediatric patients can be managed conservatively with minimal complications. This varies considerably compared to adult newly diagnosed immune thrombocytopaenia (NDITP) where, in most cases, thrombocytopaenia persists with higher risk of moderate to severe bleeding complications. ...

• 1. Telethon Kids Institute
• Our research
• Reports and Findings
• 2023
• May 2023