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The state-of-the-art of N-of-1 therapies and the IRDiRC N-of-1 development roadmap

In recent years, a small number of people with rare diseases caused by unique genetic variants have been treated with therapies developed specifically for them. This pioneering field of genetic N-of-1 therapies is evolving rapidly, giving hope for the individualized treatment of people living with very rare diseases. 

Global Lung Function Initiative reference values for multiple breath washout indices

Multiple breath washout is a lung function test based on tidal breathing that assesses lung volume and ventilation distribution. The aim of this analysis was to use the Global Lung Function Initiative methodology to develop all-age reference equations for the multiple breath washout indices lung clearance index and functional residual capacity.

Radiographic and visual response to the type II RAF inhibitor tovorafenib in children with relapsed/refractory optic pathway glioma in the FIREFLY-1 trial

Due to their anatomical locations, optic pathway gliomas (OPGs) can rarely be cured by resection. Given the importance of preserving visual function, we analyzed radiological and visual acuity (VA) outcomes for the type II RAF inhibitor tovorafenib in the OPG subgroup of the phase 2 FIREFLY-1 trial.

The role of parenting- and employment-related variables on fathers' involvement in their children's education

Parent involvement strongly correlates with children's educational attainment. Sociocultural shifts in parenting roles and shared responsibilities have driven an increase in the need for involvement of fathers in activities to support their children's educational development. Several factors are thought to influence father involvement in children's education; however, the most salient factors remain unclear.

Jet versus vibrating mesh nebulizer for tobramycin aerosol in spontaneously breathing children with tracheostomies: A simulation study

Tracheostomy tubes act as foreign bodies, predisposing the surrounding airway to respiratory infections. Initial treatment for infections is topical - nebulized tobramycin - although guidelines for standardized treatment are lacking.

Six months of hybrid closed-loop therapy improves diabetes-specific positive well-being, and reduces diabetes distress and fear of hypoglycemia: secondary analysis of a controlled trial

This analysis aimed to investigate diabetes-specific psychological outcomes among adults with type 1 diabetes (T1D) using hybrid closed-loop (HCL) versus standard therapy. 

Bile acids in the lower airways is associated with airway microbiota changes in chronic obstructive pulmonary disease: an observational study

Chronic obstructive pulmonary disease (COPD) is a complex disorder with a high degree of interindividual variability. Gastrointestinal dysfunction is common in patients with COPD and has been proposed to influence the clinical progression of the disease. Using the presence of bile acid(s) (BA) in bronchoalveolar lavage (BAL) fluid as a marker of gastric aspiration, we evaluated the relationships between BAs, clinical outcomes and bacterial lung colonisation.

Ethnicity and anthropometric deficits in children: A cross-sectional analysis of national survey data from 18 countries in sub-Saharan Africa

Child anthropometric deficits remain a major public health problem in Sub-Saharan Africa (SSA) and are a key target of the UN Sustainable Development Goals (SDGs). The SDGs recommend disaggregation of health indicators by ethnic group. However, few studies have assessed how ethnicity is associated with anthropometric deficits across SSA.

The use of automated insulin delivery around physical activity and exercise in type 1 diabetes: a position statement of EASD and ISPAD

Regular physical activity and exercise (PA) are cornerstones of diabetes care for individuals with type 1 diabetes. In recent years, the availability of automated insulin delivery (AID) systems has improved the ability of people with type 1 diabetes to achieve the recommended glucose target ranges. PA provide additional health benefits but can cause glucose fluctuations, which challenges current AID systems.

Prenatal Origins of Obstructive Airway Disease: Starting on the Wrong Trajectory?

From the results of well-performed population health studies, we now have excellent data demonstrating that deficits in adult lung function may be present early in life, possibly as a result of developmental disorders, incurring a lifelong risk of obstructive airway diseases such as asthma and chronic obstructive pulmonary disease.