Publications by authors named "P N Robinson"

Article Synopsis
  • Vanzacaftor-tezacaftor-deutivacaftor is a new CFTR modulator showing safety and effectiveness in phase 2 trials for adults with cystic fibrosis, leading to a study evaluating its use in children aged 6-11.
  • This phase 3 trial, called RIDGELINE, involved participants from 33 clinical sites across eight countries, focusing on children with specific CFTR variants and stable health conditions.
  • The study aimed to assess the drug's safety, tolerability, and efficacy over 24 weeks, with primary outcomes evaluated through various health metrics and participant feedback.
View Article and Find Full Text PDF

Genetic tests available in the prenatal setting have expanded rapidly with next generation sequencing, and fetal imaging can detect a breadth of many structural and functional abnormalities. To identify a fetal genetic disease, deep phenotyping is increasingly important to generate a differential diagnosis, choose the most appropriate genetic tests, and inform the results of those tests. The Human Phenotype Ontology (HPO) organizes and defines the features of human disease to support deep phenotyping, and ongoing efforts are being made to improve the scope of the HPO to comprehensively include fetal phenotypes.

View Article and Find Full Text PDF

Long-term studies are critical for ecological understanding, but they are underutilized as inclusive opportunities for training ecologists. We use our perspective from the Año Nuevo elephant seal programme along with surveys from community members to propose that long-term studies could be better leveraged to promote inclusive education and professional development in ecology. Drawing on our experiences as mentors and mentees, we demonstrate how long-term studies can use their resources, including rich data, robust logistics and extensive professional networks, to improve recruitment and retention of diverse groups of trainees.

View Article and Find Full Text PDF

The value of 'data-enabled', digital healthcare is evolving rapidly, as demonstrated in the COVID-19 pandemic, and its successful implementation remains complex and challenging. Harmonisation (within/between healthcare systems) of infrastructure and implementation strategies has the potential to promote safe, equitable and accessible digital healthcare, but guidance for implementation is lacking. Using respiratory technologies as an example, our scoping review process will capture and review the published research between 12th December 2013 to 12th December 2023.

View Article and Find Full Text PDF

A PHP Error was encountered

Severity: Warning

Message: A non-numeric value encountered

Filename: controllers/Author.php

Line Number: 219

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 219
Function: _error_handler

File: /var/www/html/index.php
Line: 316
Function: require_once

A PHP Error was encountered

Severity: Warning

Message: A non-numeric value encountered

Filename: libraries/Pagination.php

Line Number: 413

Backtrace:

File: /var/www/html/application/controllers/Author.php
Line: 274
Function: create_links

File: /var/www/html/index.php
Line: 316
Function: require_once