Publications by authors named "Jonker A"

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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Introduction: The Medical Device Regulation (EU)745/2017, increased the regulatory requirements and thus the time and the cost associated with marketing medical devices. For a majority of medical device manufacturers, this has lead to reconsiderations of their product portfolio. The risk of important or essential devices being withdrawn is particularly relevant for pediatric patients and other rare disease patients where limited numbers of devices can be sold and hence the investment needed may not be recovered.

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is a major bacterial pathogen causing porcine pleuropneumoniae, which is a disease of notable economic impact and high fatality rates among pigs worldwide. It has been reported that 19 distinct serotypes of this bacterium exist. Despite its global prominence, there exists a scarcity of information regarding its prevalence and distribution in South Africa.

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Brucellosis is an economically important zoonotic disease affecting humans, livestock, and wildlife health globally and especially in Africa. Brucella abortus and B. melitensis have been isolated from human, livestock (cattle and goat), and wildlife (sable) in South Africa (SA) but with little knowledge of the population genomic structure of this pathogen in SA.

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Non-typhoidal salmonellosis (NTS) is significant and an economic burden in Nigeria. To determine whether investment in NTS control is economically justifiable, Outbreak Costing Tool (OCT) was used to estimate the robust funding of public and animal health systems for epidemio-surveillance and control of multisectoral NTS outbreaks in Nigeria. Health, production, and economic data were collected and used to populate the tool for evaluation.

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Background: Low rumen pH is proposed to be a major mechanism for low methane (CH) emissions from sheep fed forage rape. However, it is difficult to separate this from other in vivo factors, such as rumen passage rate. The objective of this study was to determine the effect of pH alone on CH production in vitro using different pH buffers.

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Automated measurements of the ratio of concentrations of methane and carbon dioxide, [CH]:[CO], in breath from individual animals (the so-called "sniffer technique") and estimated CO production can be used to estimate CH production, provided that CO production can be reliably calculated. This would allow CH production from individual cows to be estimated in large cohorts of cows, whereby ranking of cows according to their CH production might become possible and their values could be used for breeding of low CH-emitting animals. Estimates of CO production are typically based on predictions of heat production, which can be calculated from body weight (BW), energy-corrected milk yield, and days of pregnancy.

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Background: Non-typhoidal infection (NTS) is an important foodborne zoonosis with underappreciated health and economic burdens, and low case fatality. It has global prevalence, with more burdens in under-resourced countries with poor health infrastructures. Using a cohort study, we determined the cost-effectiveness of NTS in humans in Nigeria for the year 2020.

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Repurposing is one of the key opportunities to address the unmet rare diseases therapeutic need. Based on cases of drug repurposing in small population conditions, and previous work in drug repurposing, we analyzed the most important lessons learned, such as the sharing of clinical observations, reaching out to regulatory scientific advice at an early stage, and public-private collaboration. In addition, current upcoming trends in the field of drug repurposing in rare diseases were analyzed, including the role these trends could play in the rare diseases' ecosystem.

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DNA double-strand breaks initiate the DNA damage response (DDR), leading to the accumulation of repair proteins at break sites and the formation of the-so-called foci. Various microscopy methods, such as wide-field, confocal, electron, and super-resolution microscopy, have been used to study these structures. However, the impact of different DNA-damaging agents on their (nano)structure remains unclear.

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Alpha-synuclein (aSyn) pathology is present in approximately 50% of Alzheimer's disease (AD) cases at autopsy and might impact the age-of-onset and disease progression in AD. Here, we aimed to determine whether tau and aSyn profiles differ between AD cases with Lewy bodies (AD-LB), pure AD and Parkinson's disease with dementia (PDD) cases using epitope-, post-translational modification- (PTM) and isoform-specific tau and aSyn antibody panels spanning from the N- to C-terminus. We included the middle temporal gyrus (MTG) and amygdala (AMY) of clinically diagnosed and pathologically confirmed cases and performed dot blotting, western blotting and immunohistochemistry combined with quantitative and morphological analyses.

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Effective interpersonal communication is essential to provide respectful and quality maternal and newborn care (MNC). This scoping review mapped, categorized, and analysed strategies implemented to improve interpersonal communication within MNC up to 42 days after birth. Twelve bibliographic databases were searched for quantitative and qualitative studies that evaluated interventions to improve interpersonal communication between health workers and women, their partners or newborns' families.

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Background: Producing animal protein while reducing the animal's impact on the environment, e.g., through improved feed efficiency and lowered methane emissions, has gained interest in recent years.

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Chromium (Cr) has been reported to modulate blood biochemistry in dairy cows. However, there is a discrepancy in the literature regarding the effects of dietary Cr supplementation on various blood parameters. This meta-analysis aimed to evaluate the effects of Cr supplementation in dairy cows on blood glucose, insulin, glucagon, nonesterified fatty acid (NEFA), cortisol, and serum total protein (STP) concentrations.

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Drug development is a complex, resource intensive and long process in any disease area, and developing medicines to treat rare diseases presents even more challenges due to the small patient populations, often limited disease knowledge, heterogeneous clinical manifestations, and disease progression. However, common to all drug development programs is the need to gather as much information as possible on both the disease and the patients' needs ahead of the development path definition. Here, we propose a checklist named START, a tool that provides an overview of the key pillars to be considered when starting an orphan drug development: STakeholder mapping, Available information on the disease, Resources, and Target patient value profile.

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Background: Rumen microbes break down complex dietary carbohydrates into energy sources for the host and are increasingly shown to be a key aspect of animal performance. Host genotypes can be combined with microbial DNA sequencing to predict performance traits or traits related to environmental impact, such as enteric methane emissions. Metagenome profiles were generated from 3139 rumen samples, collected from 1200 dual purpose ewes, using restriction enzyme-reduced representation sequencing (RE-RRS).

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Several high-risk medical devices for children have become unavailable in the European Union (EU), since requirements and costs for device certification increased markedly due to the EU Medical Device Regulation. The EU-funded CORE-MD project held a workshop in January 2023 with experts from various child health specialties, representatives of European paediatric associations, a regulatory authority and the European Commission Directorate General Health and Food Safety. A virtual follow-up meeting took place in March 2023.

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Cell-free expression (CFE) systems are fundamental to reconstituting metabolic pathways toward the construction of a synthetic cell. Although an -based CFE system is well-established, simpler model organisms are necessary to understand the principles behind life-like behavior. Here, we report the successful creation of a CFE system derived from JCVI-syn3A (Syn3A), the minimal synthetic bacterium.

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Ethylene is an important plant hormone that is involved in the regulation of numerous processes in plant development. It also acts as a signaling molecule in response to biotic and abiotic stress conditions. Most studies have investigated ethylene evolution of harvested fruit or small herbaceous plants under controlled conditions, but only a few explored ethylene release in other plant tissues, such as leaves and buds, particularly those of subtropical crops.

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Domestic ruminant abortions due to infectious agents represent an important cause of economic losses in the agricultural industry. This study aimed to optimise and apply qPCR assays for detection of Chlamydiales in domestic ruminant abortion cases. Primers and probes for detection of the order Chlamydiales, , , and were taken from the literature to create one singleplex and two duplex assays and the assays were optimised.

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