Publications by authors named "A Jonker"

There is a need for rigorous and scientifically-based testing standards for existing and new enteric methane mitigation technologies, including antimethanogenic feed additives (AMFA). The current review provides guidelines for conducting and analyzing data from experiments with ruminants intended to test the antimethanogenic and production effects of feed additives. Recommendations include study design and statistical analysis of the data, dietary effects, associative effect of AMFA with other mitigation strategies, appropriate methods for measuring methane emissions, production and physiological responses to AMFA, and their effects on animal health and product quality.

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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. In this Review, we outline the concept of N-of-1 individualized therapies, focusing on genetic therapies, and illustrate advances and challenges in the field using cases for which therapies have been successfully developed.

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Article Synopsis
  • The IRDiRC Telehealth Task Force investigated how telehealth can enhance diagnosis, care, research, and education related to rare diseases by reviewing literature from 2017 to 2023 and identifying effective models and strategies.
  • The COVID-19 pandemic significantly boosted the adoption of telehealth, highlighting its ability to overcome geographical barriers and improve access to specialized care for rare disease patients.
  • While telehealth presents several benefits, such as decentralized clinical research and enhanced education for local healthcare providers, it also has limitations, including challenges in performing physical exams and building personal relationships with healthcare professionals, thus suggesting it should complement traditional care rather than replace it.
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Article Synopsis
  • The growth of rare disease therapeutics is leading to various innovative treatment options, including orphan medicinal products, medical devices, rehabilitative therapies, and digital therapeutics, all addressing unique patient needs.
  • The paper discusses insights from the RE(ACT)-IRDiRC Conference 2023, focusing on orphan medical device development, the associated challenges, and the opportunities presented in this expanding field.
  • Examples of groundbreaking devices include an exoskeleton for Duchenne Muscular Dystrophy and a seizure-detecting EEG device, both emphasizing the importance of patient-centric design and the need for increased support in research for rare disease therapies.
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