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Tatton‐Brown–Rahman syndrome (TBRS) or DNMT3A‐overgrowth syndrome is characterized by overgrowth and intellectual disability associated with minor dysmorphic features, obesity, and behavioral problems. It is caused by variants of the DNMT3A gene. We report four patients with this syndrome due to de novo DNMT3A pathogenic variants, contributing to a deeper understanding of the genetic basis and pathophysiology of this autosomal dominant syndrome. Clinical and magnetic resonance imaging assessments were also performed. All patients showed corpus callosum anomalies, small posterior fossa, and a deep left Sylvian fissure; as well as asymmetry of the uncinate and arcuate fascicles and marked increased cortical thickness. These results suggest that structural neuroimaging anomalies have been previously overlooked, where corpus callosum and brain tract alterations might be unrecognized neuroimaging traits of TBRS syndrome caused by DNMT3A variants. [ABSTRACT FROM AUTHOR]

Soil water deficit and salinity represent a major factor impacting plant survival and agricultural production. The frequency and severity of both abiotic stresses are expected to increase in a context of climate change, especially in arid and semi-arid regions. This work studied the growth pattern, biomass and mineral distribution and the seasonal pattern of water status, photosynthetic rate and stomatal conductance in plant of Pistacia lentiscus grown under different levels of water deficit and salinity. P. lentiscus plants growing under greenhouse conditions were subjected to four irrigation treatments during 11 months: control (C, 1 dS m-1), moderate water deficit (MW, 1dS m-1, 60% of the control), severe water deficit (SW, 1 dS m-1, 40% of the control) and saline (S, 4dS m-1). The results show that Pistacia lentiscus plants were more affected by deficit irrigation than salinity. Deficit irrigation and salinity inhibited plant height, with reductions of 20%, 22% and 35% for S, MW and SW, respectively. Total leaf area was not modified by effect of the treatments, with the result that plant compactness increased in MW. The salt stressed plants only showed lower relative growth rate at the end of the experiment. Plants responded to saline or drought stress by increasing their osmotic adjustment, which was more pronounced under salinity. Saline plants had the highest values in Na+ and Cl- ions and the lowest values for K+/Na+ and Ca2+/Na+ ratios in leaves and stems, which is correlated with a decrease in growth, stomatal conductance, photosynthesis and stem water potential, and can be used as a diagnostic tool to assess plant tolerance to salinity stress. As a measure of plant hydration, relative water content was more sensitive to deficit irrigation than salinity, being a good indicator of water stress. P. lentiscus plants subjected to both deficit irrigation treatments exhibited an increase in their intrinsic water use efficiency, which is an important adaptation for plants growing in environments with water scarcity. [ABSTRACT FROM AUTHOR]

Featured Application: Pistachio orchard management using remote sensing with UAVs. Pistachio (Pistacia vera L.) has earned recognition as a significant crop due to its unique nutrient composition and its adaptability to the growing threat of climate change. Consequently, the utilization of remote sensing techniques for non-invasive pistachio monitoring has become critically important. This research was conducted in two pistachio orchards located in Spain, aiming to assess the effectiveness of vegetation indices (VIs) in estimating nut yield and quality under various irrigation conditions. To this end, high-resolution multispectral and thermal imagery were gathered using a Micasense ALTUM sensor carried by a DJI Inspire 2 drone in order to calculate the NDRE (normalized difference red edge index), GNDVI (green normalized difference vegetation index), NDVI (normalized difference vegetation index), and CWSI (crop water stress index). Each orchard underwent two flights at distinct growth stages, totaling four flights. In June, NDRE-carbohydrates (r = 0.78) and CWSI-oleic (r = 0.77) showed the highest correlations, while in September, CWSI-carbohydrates (r = 0.62) and NDVI-iron (r = 0.54) Despite NDVI's limitations due to saturation effects, all VIs had significant yield and quality correlations, with GNDVI proving most effective in both flights. CWSI correlated considerably on both dates in terms of several quality parameters (carbohydrate percentage, magnesium, iron, and fatty acids, namely palmitoyl, stearic, oleic, and linoleic), surpassing non-thermal indices. Finally, it is important to consider the impact of environmental factors, such as the location of the sun, when interpreting the CWSI, as it modifies the temperature distribution pattern within the canopy. This study supports the viability of remote sensing and vegetation indices as potential tools for enhancing the management of pistachio orchards. [ABSTRACT FROM AUTHOR]

The phenotypic repercussion of ZDHHC15 haploinsufficiency is not well‐known. This gene was initially suggested as a candidate for X‐linked mental retardation, but such an association was later questioned. We studied a multiplex family with three members with autism spectrum disorder (ASD) by array CGH, karyotype, exome sequencing and X‐chromosome inactivation patterns. Medical history interviews, cognitive and physical examinations, and sensory profiling were also assessed. The three family members with ASD (with normal cognitive abilities and an abnormal sensory profile) were the only carriers of a 1.7 Mb deletion in the long arm of chromosome X, involving: ZDHHC15, MAGEE2, PBDC1, MAGEE1, MIR384 and MIR325. The normal chromosome X was preferentially inactivated in female carriers, and the whole exome sequencing of an affected family member did not reveal any additional genetic variant that could explain the phenotype. Thus, in the present family, ASD segregates with a deletion on chromosome X that includes ZDHHC15. Considering our results together with gene data (regarding function, expression, conservation and animal/cellular models), ZDHHC15 is a candidate gene for ASD. Emerging evidence also suggests that this gene could be associated with other neurodevelopmental disorders, with incomplete penetrance and variable expressivity. [ABSTRACT FROM AUTHOR]

Almond cultivation in the Mediterranean area has undergone important changes leading to the current trend of intensification. In this scenario, low-vigor rootstocks have recently been developed, such as the 'Rootpac®' series, but knowledge about the rootstock's influence on adaptation to high-density planting systems is very scarce. The objective of this work was to assess the morphological and physiological response of four almond cultivars grafted on 'Rootpac-20'. To this end, one-year-old almond plants (Prunus dulcis (Mill) D. A. Webb.) cv 'Penta' (P), 'Guara' (G), 'Vialfas' (V) and 'Soleta' (S) were grown in pots, irrigated at field capacity (from June to September). Plant height and trunk diameter were measured periodically, and the water use efficiency of production was determined at the end of the trial. Evapotranspiration was measured throughout the experiment. The trunk diameter was greater in S and G at the end of the trial. Similarly, the tallest plants were G while the shortest ones were P. In general, G and S had a higher water use efficiency than V and P. 'Soleta' grafted on 'Rootpac-20' had higher evapotranspiration values (+25%), which is an important issue when selecting plant material, especially in the case of limited water availability for irrigation. [ABSTRACT FROM AUTHOR]

Summary: Although follicular lymphoma (FL) patients relapsing within 24 months after first‐line treatment (POD24) have a poor prognosis, some cases show notable survival after first relapse (SF1R). We aimed to characterize the POD24 FL population and to identify the main prognostic factors at progression. We selected 162 POD24 patients (80F; median age at first relapse 59 years) from a cohort of 1067 grades 1‐3a FL‐treated patients. The remaining 905 patients treated with first‐line immunochemotherapy and diagnosed during the same period were used to compare outcomes in terms of survival. After a median follow‐up of 11.0 years, 96 patients died (10y‐SF1R of 40%). Age over 60 years (p < 0.001), high lactate dehydrogenase (LDH) (p < 0.001), haemoglobin (Hb) less than 120 g/L (p < 0.001), advanced stage (p < 0.001), high‐risk Follicular Lymphoma International Prognostic Index (FLIPI) (p < 0.001), histological transformation (HT) (p < 0.001) and reaching less than complete response (CR) after salvage therapy (p < 0.001), predicted poor SF1R at relapse. In multivariate analysis only high‐risk FLIPI and HT maintained prognostic significance for SF1R. POD24 patients not transformed and with low/intermediate FLIPI at relapse behaved better than the remaining cases. POD24 patients showed an excess mortality of 38% compared to the general population. Although outcome of POD24 FL patients is poor, a considerable group of them (low/intermediate FLIPI and not transformed at first relapse) behave better. [ABSTRACT FROM AUTHOR]

Interest in pistachios has increased in recent years due to their healthy nutritional profile and high profitability. In pistachio trees, as in other woody crops, the volume of the canopy is a key factor that affects the pistachio crop load, water requirements, and quality. However, canopy/crown monitoring is time-consuming and labor-intensive, as it is traditionally carried out by measuring tree dimensions in the field. Therefore, methods for rapid tree canopy characterization are needed for providing accurate information that can be used for management decisions. The present study focuses on developing a new, fast, and low-cost technique, based on two main steps, for estimating the canopy volume in pistachio trees. The first step is based on adequately planning the UAV (unmanned aerial vehicle) flight according to light conditions and segmenting the RGB (Red, Green, Blue) imagery using machine learning methods. The second step is based on measuring vegetation planar area and ground shadows using two methodological approaches: a pixel-based classification approach and an OBIA (object-based image analysis) approach. The results show statistically significant linear relationships (p < 0.05) between the ground-truth data and the estimated volume of pistachio tree crowns, with R2 > 0.8 (pixel-based classification) and R2 > 0.9 (OBIA). The proposed methodologies show potential benefits for accurately monitoring the vegetation of the trees. Moreover, the method is compatible with other remote sensing techniques, usually performed at solar noon, so UAV operators can plan a flexible working day. Further research is needed to verify whether these results can be extrapolated to other woody crops. [ABSTRACT FROM AUTHOR]

Pawelek et al. analysed the exposure of young and old bean seeds to electromagnetic fields (EMFs) (50 Hz, 7 mT) and studied seed germination and seedling growth in different situations. Plant stress can be defined as any adverse situation or agent that can damage or block the metabolism, growth or development of a plant. The results obtained showed the stimulation of germination and early root growth of old seeds, sown in Petri dishes in continuous darkness, and the inhibition of the germination of young seeds sown in pots under long day conditions. The root growth of two-week-old seedlings of young seeds sown in pots was stimulated by an EMF treatment, while stem growth was suppressed. [Extracted from the article]

A total of 248 UAV RGB images were taken in the summer of 2021 over a representative pistachio orchard in Spain (X: 341450.3, Y: 4589731.8; ETRS89/UTM zone 30N). It is a 2.03 ha plot, planted in 2016 with Pistacia vera L. cv. Kerman grafted on UCB rootstock, with a NE–SW orientation and a 7 × 6 m triangular planting pattern. The ground was kept free of any weeds that could affect image processing. The photos (provided in JPG format) were taken using a UAV DJI Phantom Advance quadcopter in two flight missions: one planned to take nadir images (β = 0°), and another to take oblique images (β = 30°), both at 55 metres above the ground. The aerial platform incorporates a DJI FC6310 RGB camera with a 20 megapixel sensor, a horizontal field of view of 84° and a mechanical shutter. In addition, GCPs (ground control points) were collected. Finally, a high-quality 3D photogrammetric reconstruction process was carried out to generate a 3D point cloud (provided in LAS, LAZ, OBJ and PLY formats), a DEM (digital elevation model) and an orthomosaic (both in TIF format). The interest in using remote sensing in precision agriculture is growing, but the availability of reliable, ready-to-work, downloadable datasets is limited. Therefore, this dataset could be useful for precision agriculture researchers interested in photogrammetric reconstruction who want to evaluate models for orthomosaic and 3D point cloud generation from UAV missions with changing flight parameters, such as camera angle. Dataset: https://doi.org/10.5281/zenodo.7271542. Dataset License: CC-BY 4.0. [ABSTRACT FROM AUTHOR]