Search

Item does not contain fulltext

Satellite remote sensing (SRS) provides huge potential for tracking progress towards conservation targets and goals, but SRS products need to be tailored towards the requirements of ecological users and policymakers. In this viewpoint article, we propose to advance SRS products with a terrestrial biodiversity focus for tracking the goals and targets of the Kunming-Montreal global biodiversity framework (GBF). Of 371 GBF biodiversity indicators, we identified 58 unique indicators for tracking the state of terrestrial biodiversity, spanning 2 goals and 8 targets. Thirty-six shared enough information to analyse their underlying workflows and spatial information products. We used the concept of Essential Biodiversity Variables (EBV) to connect spatial information products to different dimensions of biodiversity (e.g. species populations, species traits, and ecosystem structure), and then counted EBV usage across GBF goals and targets. Combined with published scores on feasibility, accuracy, and immaturity of SRS products, we identified a priority list of terrestrial SRS products representing opportunities for scientific development in the next decade. From this list, we suggest two key directions for advancing SRS products and workflows in the GBF context using current instruments and technologies. First, existing terrestrial ecosystem distributions and live cover fraction SRS products (of above-ground biomass, ecosystem fragmentation, ecosystem structural variance, fraction of vegetation cover, plant area index profile, and land cover) need to be refined using a co-design approach to achieve harmonized ecosystem taxonomies, reference states and improved thematic detail. Second, new SRS products related to plant physiology and primary productivity (e.g. leaf area index, chlorophyll content & flux, foliar N/P/K content, and carbon cycle) need to be developed to better estimate plant functional traits, especially with deep learning techniques, radiative transfer mo, Mathematical Geodesy and Positioning

Contains fulltext : 251752.pdf (Publisher’s version ) (Open Access), BACKGROUND: In patients with primary mitochondrial disease (MD), screening with electrocardiogram (ECG) and transthoracic echocardiography (TTE) is warranted according to current guidelines as structural cardiac abnormalities are frequent. This study aims to evaluate the cardiac phenotype of a large Dutch cohort of patients with MD and investigates whether ECG alone is sufficient for predicting structural cardiac abnormalities on TTE. METHODS: In this retrospective cohort study, genetically confirmed MD patients >18 years old with an available ECG and TTE were included. Newcastle Mitochondrial Disease Scale for Adults (NMDAS) scores were assessed. ECG's were evaluated for rhythm and conduction disorders, voltage criteria for left ventricular hypertrophy (LVH) and repolarization disorders. Echocardiographic evaluation included left and right ventricular volumes and function, and presence of LVH or concentric remodeling. RESULTS: In total, 200 MD patients were included with a median age of 45 years (IQR; 37-57) of whom 36% were male. Of all MD patients, 35% had abnormalities on ECG and 61% on TTE. Most frequent structural cardiac abnormalities on TTE were: global longitudinal strain > - 18% (54%), concentric remodeling (27%) and left ventricular (LV) ejection fraction <52% (14%). Patients with maternally inherited diabetes and deafness (MIDD) and mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) had the highest prevalence of ECG abnormalities (50% and 47%). TTE abnormalities were most prevalent in patients with MIDD (75%), followed by mitochondrial myopathy (MM) (55%), MELAS (47%) and Mitochondrial Epilepsy and Ragged Red Fibers (MERRF) (47%). MD patients with a high disease severity (NMDAS ≥21) had a higher prevalence of ECG abnormalities (44%, p = 0.039) and structural cardiac abnormalities (72%, p = 0.004) compared to patients with a NMDAS score of 11-20 and ≤ 10 (ECG: 34% and 19%; TTE: 63% and 39%). ECG abnormalities had a positive

Item does not contain fulltext, KBTBD13 variants cause nemaline myopathy type 6 (NEM6). The majority of NEM6 patients harbors the Dutch founder variant, c.1222C>T, p.Arg408Cys (KBTBD13 p.R408C). Although KBTBD13 is expressed in cardiac muscle, cardiac involvement in NEM6 is unknown. Here, we constructed pedigrees of three families with the KBTBD13 p.R408C variant. In 65 evaluated patients, 12% presented with left ventricle dilatation, 29% with left ventricular ejection fraction< 50%, 8% with atrial fibrillation, 9% with ventricular tachycardia, and 20% with repolarization abnormalities. Five patients received an implantable cardioverter defibrillator, three cases of sudden cardiac death were reported. Linkage analysis confirmed cosegregation of the KBTBD13 p.R408C variant with the cardiac phenotype. Mouse studies revealed that (1) mice harboring the Kbtbd13 p.R408C variant display mild diastolic dysfunction; (2) Kbtbd13-deficient mice have systolic dysfunction. Hence, (1) KBTBD13 is associated with cardiac dysfunction and cardiomyopathy; (2) KBTBD13 should be added to the cardiomyopathy gene panel; (3) NEM6 patients should be referred to the cardiologist.

Item does not contain fulltext

Contains fulltext : 239962.pdf (Publisher’s version ) (Open Access)