Miracle-dz/UniFAR-FTUs huggingface dataset:
De novo EIF2AK1 and EIF2AK2 variants are associated with developmental delay, leukoencephalopathy, and neurologic decompensation

EIF2AK1 and EIF2AK2 encode members of the Eukaryotic Translation Initiation Factor 2 Alpha Kinase (EIF2AK) family that inhibits protein synthesis in response to physiologic stress conditions. EIF2AK2 is also involved in innate immune response and the regulation of signal transduction, apoptosis, cell proliferation, and differentiation. Despite these findings, human disorders associated with deleterious variants in EIF2AK1 and EIF2AK2 have not been reported. Here, we describe the identification of eight unrelated individuals with heterozygous de novo missense variants in EIF2AK1 (1/8) or EIF2AK2 (7/8). Features seen in these eight individuals include white matter alterations (8/8), developmental delay (8/8), impaired language (8/8), cognitive impairment (7/8), ataxia (6/8), dysarthria in probands with verbal ability (6/6), hypotonia (6/8), hypertonia (5/8), and involuntary movements (3/8). Individuals with EIF2AK2 variants also exhibit neurological regression in the setting of febrile illness or infection. We use mammalian cell lines and patient-derived fibroblasts to further confirm the pathogenicity of variants in these genes and found reduced kinase activity. EIF2AKs phosphorylate Eukaryotic Translation Initiation Factor 2 Subunit 1, (EIF2S1, also known as EIF2α), which then inhibits EIF2B activity. Deleterious variants in genes encoding EIF2B proteins cause childhood ataxia with central nervous system hypomyelination/vanishing white matter disease (CACH/VWM), a leukoencephalopathy characterized by neurologic regression in the setting of febrile illness and other stressors. Our findings indicate that EIF2AK2 missense variants cause a neurodevelopmental syndrome that may share phenotypic and pathogenic mechanisms with CACH/VWM.
Preliminary evaluation of the effect of three rates of ground leaves and fruits powders of Myristica fragrans on Meloidogyne incognita infecting sunflower in vivo

Three rates of ground leaves and fruits powders of Myristica fragrans (5, 10 and 20 g/pot) were evaluated for their nematicidal effect against M. incognita infecting sunflower plants under greenhouse conditions. Results indicated that all tested applications significantly enhanced sunflower plant growth characters. Moreover, all tested treatments significantly gave better results with a significant correlation between the increase in the added dose and the improvement rate in the tested plant criteria and nematode parameters. The modest dose of leaves and fruits doses (10 g/pot) recorded the highest rates of improvement with values of 88.5 and 63.5; 88.9 and 75.0; 141 and 133.3% respectively for plant length, total plant wet weight and shoot dry weight. On the other hand, the highest rate of ground leaves and fruits powders of M. fragrans (20 g /pot) recorded the highest reduction in tested nematode criteria with values of 80.0 and 75.9% for final nematode reproduction and stated the lowest nematode reproduction factor (RF) compared to nematode only treatment. Key words: Ground, powders, Myristica fragrans, nematicidal activity, Meloidogyne incognita, sunflower.
Body donation trends at the Nelson R. Mandela School of Medicine, University of KwaZulu-Natal over a three-decade period (1988–2017): Implications for medical education

Dissection and prosection remain the gold standards for the teaching of anatomy to pre-clinical medical students around the world. This has made the practice of whole body donation the cornerstone of medical programmes. This study aims to determine the trends in body donation among South Africans and predict the best possible and realistic approach for the teaching of anatomy in the near future. Data from 696 cadavers donated during a three-decade period (1988–2017) were obtained from the files of the Discipline of Clinical Anatomy, University of KwaZulu-Natal South Africa. Data were analysed as percentages, mean ± standard deviation using Statistical package for social sciences version 24. Most bodies were donated in the first decade of this study (1988–1997). Family bequests through funeral services accounted for the majority of donations. Bodies were predominantly in the seventh decade of life (18.8%) and a larger proportion were males (61.6%). Bequests were found to be more among the whites (57.5%) than all the other races. The causes of death in donors were from a wide range of conditions. The study revealed that the trend in the practice of body donation in South Africa has been erratic, which makes it difficult to predict the number of bodies available for medical education. Alternative approaches to anatomy education such as plastination techniques and computational models need to be sought to ensure sound and uninterrupted medical programmes in South African schools.
Heightened perception of competition hastens courtship

When animals use costly labile display or signal traits to display to the opposite sex, they face complex decisions regarding the degree and timing of their investment in separate instances of trait expression. Such decisions may be informed by not only the focal individual’s condition (or pool of available resources) but also aspects of the social environment, such as perceptions of same-sex competition or the quality of available mates. However, the relative importance of these factors to investment decisions remains unclear. Here, we use manipulations of condition (through dietary nutrition), recent social environment (exposure to a silenced male, nonsilenced male, female, or isolation), and female mating history (single or multiple male) to test how quickly male decorated crickets (Gryllodes sigillatus) decide to begin courting an available female. We find that males that were previously housed with nonsilenced males started courting the female earlier than other males. Females only mounted males after courtship began. Our results suggest a strong effect of the perception of competition on the decision to invest resources in sexual signaling behavior and that females might exert directional selection on its timing.
Paleobiological Forensic Study of an Upper Miocene Pelobates Tadpole (Anura, Pelobatidae) from the Tresjuncos Lagerstätte of Central Spain

ABSTRACT A paleobiological reconstruction of the last hours of life of an exceptionally well-preserved fossil tadpole is carried out through morphological and taphonomic analyses, allowing inferences to be made about its identification, developmental stage, physical condition, health, behavior, death, and burial. The tadpole was recovered from an upper Miocene (Turolian, MN13) diatomaceous konservat-lagerstätte deposit near Tresjuncos (Cuenca Province, Spain). The specimen belongs to an unnamed species of Pelobates (Pelobatidae) of the westernmost Palearctic phylogenetic clade. Its gigantic size was due neither to metabolic (hypothyroidism) nor to ecological (overwintering) causes but merely reflects an optimum living environment. Dying at Gosner developmental stage 41, the ossification pattern of the tadpole is slightly discordant with that of extant Pelobates cultripes, a greater degree for the skull and vertebral column in the fossil. The tadpole, seemingly in excellent health, had an intestine containing abundant remains of an epiphytic/epipelic diatom, different from the planktonic species surrounding the fossilized body. Death was probably violent, as revealed by a fossil hollow trace similar to hematomas made by egret beak strikes. Rapid burial coincided with an occurrence of massive planktonic diatom sedimentation distant from the lakeshore.
The use of a hand-held algometer as a method to measure mechanical nociceptive thresholds in sheep

The aim of this study was to explore the use of a hand-held algometer for the measurement of mechanical nociceptive thresholds (MNT) in sheep (Ovis aries). Twelve ewes were tested over three consecutive days by two operators, and MNTs were measured over six predetermined sites on both forelimbs every five minutes for 30 min. The effects of test period, measurement number within test period and different anatomical points on MNT levels were investigated, in addition to establishing baseline MNT levels for the sheeps’ forelimbs. A significant decrease of MNT values was observed over the three consecutive test days and within each test period. The anatomical points located closest to the carpus and fetlock joints had significantly higher MNT values compared to the anatomical points located over the middle part of the metacarpus, possibly due to the protective function of the distal part of the extensor retinaculum and the dorsal pouch of the fetlock joint capsules. There was no difference in MNT values between the right and left foreleg. There was a tendency for a flattening out of the drop in MNT towards the last measurement. Hence, we suggest using the values from the last two measurements when determining normative values, and to habituate the ewes to the procedure of measuring MNT levels. Taking these factors into consideration, a hand-held algometer is a useful tool to measure MNTs in sheep.
Persistence of microcystin production by Planktothrix agardhii (Cyanobacteria) exposed to different salinities

ABSTRACT Recent reports predict increases in harmful cyanobacteria in water systems worldwide due to climatic and environmental changes, which would compromise water quality and public health. Among abiotic changes, higher salinities are expected to promote the growth of certain harmful species, such as Planktothrix agardhii, which forms blooms in brackish waters. Since P. agardhii is a common producer of cyanotoxin, we investigated the growth and tolerance of this species when exposed in vitro to a range of salinities, while assessing variations in its microcystin diversity and production in batch cultures during a time-frame experiment spanning 18 days. The study revealed salt acclimation of the brackish P. agardhii, which continued to produce microcystins in salty cultures, while maintaining its growth capacity at low to medium NaCl (ranging from 0 to 7.5 g l−1). With higher concentrations (10 to 15 g l−1) significantly less growth occurred, corresponding to the shortening of cyanobacterial filaments, which nevertheless maintained their metabolic functions, as revealed by the high intensity of chlorophyll auto-fluorescence and persistent microcystin production. These findings showed that moderate to high salt levels do not inhibit microcystin production by P. agardhii, at least for several weeks. This raises questions concerning the persistence of harmful cyanobacteria in shallow water systems more exposed to evaporation and consequently to an increase in salinity in the future, as predicted by various climate models.
Cytotoxicity Evaluation of Endodontic Pins on L929 Cell Line

Objective The aim of this study was to evaluate the cytotoxic potential of a type of endodontic pin on L929 cell line according to the UNI EN ISO 10993/2009 rule. Methods L929 cells were used for the assays; extracts were prepared from three different-diameter endodontic pins, made of epoxy resin and fiberglass matrix and from Reference Materials (ZDEC, ZDBC, and HDP films). MTS assay was performed after 24 h, 48 h, and 72 h of exposure of L929 cells to pin and Reference Material extracts, 5% phenol solution, and control reagent. Cells cultured with different media containing extracts were monitored for up to 72 h and stained with haematoxylin/eosin. Results Pins of different diameters had no cytotoxic effects on L929 cells at 24 h, 48 h, and 72 h (all values >70%). Cells cultured in medium containing pin extracts grew without any differences compared to the control cells. Conclusion The endodontic pins tested showed no cytotoxic effects and did not induce changes in morphology for up to 72 h.
Probing the neural dynamics of mnemonic representations in humans

Memories are not stored as static engrams, but as dynamic representations affected by processes occurring after initial encoding or even consolidation. How the modulation of memory traces after their formation is reflected in the neural activity during subsequent retrieval is currently not well understood. Using fMRI in 27 healthy human participants, we probed how neural representations of associative memories are dynamically modulated by two behavioral techniques that can either strengthen or weaken memories after encoding. Behaviorally, we demonstrated that, after an initial delay of 24 hours, associative memories can still be strengthened or weakened by repeated retrieval or suppression, respectively. Neurally, we show that repeated retrieval dynamically reduced activity amplitude in ventral visual cortex and hippocampus, but enhanced the distinctiveness of activity patterns in the ventral visual cortex. Critically, a larger reduction of activity amplitude in the ventral visual cortex associated with larger enhancement of distinctiveness of activity patterns in the same region. In contrast, repeated memory suppression was associated with reduced lateral prefrontal activity, but relative intact activity patterns. These results reveal dynamic adaptations of mnemonic representations in the human brains and how retrieval-related activity amplitude and distinctiveness of activation patterns change as a function of strengthening or weakening.
FIELD SCREENING OF BRINJAL VARITIES ON MAJOR PESTS AND THEIR NATURAL ENEMIES

A field experiment was conducted to study the response of cultivars/ hybrids/ germplasm of brinjal to major insect pests and their natural enemies. The study revealed that the hybrid, Sweta was the best in reducing the shoot and fruit damage by Leucinodes orbonalis Guen. recording the mean shoot and fruit damage of 8.0 and 8.7 per cent (number basis) and population of spotted leaf beetle, Henosepilachna vigintioctopunctata Fab. , ash weevil, Myllocerus spp. Guerin, mealybug, Coccidohystrix insolitus Green, aphid, Aphis gossypii Glover, leafhopper, Amrasca devastans Ishida and whitefly, Bemisia tabaci (Gennadius) recording 8.0, 0.0, 6.5, 6.3, 0.0 and 0.0 nos./ three leaves, respectively. The hybrids, Bejo Sheetal and Pusa hybrid-6 recorded high population of coccinellids, syrphids and spiders. The biochemical characters such as total sugars, total chlorophyll and moisture content were positively correlated with shoot damage while total phenols and ash content have negative correlation.
Genetic structure of the Chagas disease vector Triatoma infestans (Hemiptera: Reduviidae) based on nuclear and mitochondrial DNA sequences

In the present study, we analysed the genetic structure of Triatoma infestans populations with a phylogeographical approach using sequences of the mitochondrial NADH dehydrogenase subunit 5 (ND5) and the nuclear elongation factor-1 alpha (EF-1α) genes of bugs obtained from Argentina and Bolivia. Spatially circumscribed haplogroups were distinguished from the ND5 gene sequences, one distributed exclusively to the south of the studied area and, in agreement with the results from the EF-1α gene, one haplogroup limited to Bolivia and another to Morajú located in the Chaco region of Argentina. In both the ND5 and EF-1α networks, the most widespread haplogroup or allele group showed a star-like topology, which is compatible with a recent demographic expansion. The asymmetric historical gene flow detected from a population of the Chaco region towards Bolivia and the spatiotemporal phylogeographical reconstruction of lineage dispersal would support the hypothesis that postulates the Chaco biogeographical region as the area of origin for the species. However, additional studies with a broader sampling in the Andean region are needed to define with certainty whether the origin of T. infestans is Chacoan or Andean.
Studies on pathogenetic ciliates from marine molluscs III. Thigmotrichine ciliates (Protozoa, Ciliophora, Scuticociliatida)

This work deals with three thigmotrichine (Scuticociliatida) ciliates found in the mantle cavity of marine molluscs off the coast of the Yellow Sea and Xiamen Bay. Three species: Ancistrum crassum, Ancistrum japonicum and Boveria subcylindrica were morphologically investigated based on living observations, protargol impregnation and wet silver impregnation techniquces. Of which four populations of Ancistrum crassum and two populations of Ancistrum japonicum from different hosts were comparatively studied. The morphometric data and comparative studies of these ciliates with previous descriptions are presented.
Burrowing Richardson’s ground squirrels affect plant seedling assemblages via environmental but not seed bank changes

Abstract In grassland ecosystems, burrowing mammals create disturbances, providing habitat for animal species and increasing plant community diversity. We investigated whether seedling assemblages on Richardson’s ground squirrel Urocitellus richardsonii mounds result from seed rearrangement or environmental changes that favor germination of certain species over others. To test whether ground squirrels rearrange the seed bank by burrowing, we compared seed compositions among mounds, burrows, and undisturbed soil. To test whether ground squirrels change environmental conditions, we compared soil nitrate and bare ground cover on and off mounds. We also compared seedlings that germinated on mounds with seedlings that germinated on artificial disturbances from which we removed aboveground vegetation. Soil nitrate and bare ground cover were significantly higher on mounds than artificial disturbances. While seed richness and abundance did not differ among mounds, burrows, and undisturbed soil, seedling richness was reduced on mounds relative to artificial disturbances. Burrowing disturbance favors seedlings that can capitalize on bare ground availability but are less able to immobilize nitrate, as opposed to perennial species that immobilize more nitrate but take longer to establish. Our results suggest that Richardson’s ground squirrels act as ecosystem engineers, although future research following succession on ground squirrel mounds is necessary to understand how they influence plant communities past the seedling stage.
Control of ALS- and EPSPS-Resistant Amaranthus palmeri by Alternative Herbicides Applied in PRE- and POST-Emergence

ABSTRACT: The emergence of resistant biotypes of the Amaranthus palmeri species in cotton production areas of the state of Mato Grosso, Brazil, generated the need for correct identification of this species and information on viable herbicidal tools for their management. Thus, greenhouse experiments were conducted to evaluate the efficacy of alternative herbicides applied to A. palmeri in pre and post emergence. A randomized block design with four replications was used. The efficacy of herbicides applied in pre emergence was evaluate in two experiments, one in a clayey and other in a sandy soil; 9 herbicide treatments (8 with herbicide application and a control without application) were applied on each soil. Subsequently, two experiments with different populations of A. palmeri were conducted, using a 13 x 2 factorial arrangement, to evaluate the efficacy of herbicides applied in post emergence. The factors consisted of 13 herbicide treatments (12 with herbicide application and a control without application) and two weed development stages (2-4 and 6-8 leaves). Pre-emergence application of the flumioxazin, S-metolachlor, isoxaflutole, and trifluralin herbicides controlled the weed satisfactorily in both evaluated soils. The sulfentrazone and metribuzin herbicides were effective in the sandy soil, and diuron was effective in the clayey soil. The clomazone herbicide did not successfully controlled the A. palmeri plants in any of the soils. All post-emergence herbicide treatments were effective for the management of A. palmeri plants, when they were applied at the 2-4 leaf stage.
Active inference under intersensory conflict: Simulation and empirical results

It has been suggested that the brain controls hand movements via internal models that rely on visual and proprioceptive cues about the state of the hand. In active inference formulations of such models, the relative influence of each modality on action and perception is determined by how precise (reliable) it is expected to be. The ‘top-down’ affordance of expected precision to a particular sensory modality presumably corresponds to attention. Here, we asked whether increasing attention to (i.e., the precision of) vision or proprioception would enhance performance in a hand-target phase matching task, in which visual and proprioceptive cues about hand posture were incongruent. We show that in a simple simulated agent—using a neurobiologically informed predictive coding formulation of active inference—increasing either modality’s expected precision improved task performance under visuo-proprioceptive conflict. Moreover, we show that this formulation captured the behaviour and self-reported attentional allocation of human participants performing the same task in a virtual reality environment. Together, our results show that selective attention can balance the impact of (conflicting) visual and proprioceptive cues on action—rendering attention a key mechanism for a flexible body representation for action. Author summary When controlling hand movements, the brain can rely on seen and felt hand position or posture information. It is thought that the brain combines these estimates into a multisensory hand representation in a probabilistic fashion, accounting for how reliable each estimate is in the given context. According to recent formal accounts of action, the expected reliability or ‘precision’ of sensory information can—to an extent—also be influenced by attention. Here, we tested whether this mechanism can improve goal-directed behaviour. We designed a task that required tracking a target’s oscillatory phase with either the seen or the felt hand posture, which were decoupled by introducing a temporal conflict via a virtual reality environment. We first simulated the behaviour of an artificial agent performing this task, and then compared the simulation results to behaviour of human participants performing the same task. Together, our results showed that increasing attention to the seen or felt hand was accompanied by improved target tracking. This suggests that, depending on the current behavioural demands, attention can balance how strongly the multisensory hand representation is relying on visual or proprioceptive sensory information.