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Scientific Reports Jul 2024Soybean is an essential crop to fight global food insecurity and is of great economic importance around the world. Along with genetic improvements aimed at...
Soybean is an essential crop to fight global food insecurity and is of great economic importance around the world. Along with genetic improvements aimed at boosting yield, soybean seed composition also changed. Since conditions during crop growth and development influences nutrient accumulation in soybean seeds, remote sensing offers a unique opportunity to estimate seed traits from the standing crops. Capturing phenological developments that influence seed composition requires frequent satellite observations at higher spatial and spectral resolutions. This study introduces a novel spectral fusion technique called multiheaded kernel-based spectral fusion (MKSF) that combines the higher spatial resolution of PlanetScope (PS) and spectral bands from Sentinel 2 (S2) satellites. The study also focuses on using the additional spectral bands and different statistical machine learning models to estimate seed traits, e.g., protein, oil, sucrose, starch, ash, fiber, and yield. The MKSF was trained using PS and S2 image pairs from different growth stages and predicted the potential VNIR1 (705 nm), VNIR2 (740 nm), VNIR3 (783 nm), SWIR1 (1610 nm), and SWIR2 (2190 nm) bands from the PS images. Our results indicate that VNIR3 prediction performance was the highest followed by VNIR2, VNIR1, SWIR1, and SWIR2. Among the seed traits, sucrose yielded the highest predictive performance with RFR model. Finally, the feature importance analysis revealed the importance of MKSF-generated vegetation indices from fused images.
Topics: Glycine max; Seeds; Machine Learning; Remote Sensing Technology; Crops, Agricultural
PubMed: 38956444
DOI: 10.1038/s41598-024-63650-3 -
Nature Communications Jul 2024The biomedical research community addresses reproducibility challenges in animal studies through standardized nomenclature, improved experimental design, transparent... (Review)
Review
The biomedical research community addresses reproducibility challenges in animal studies through standardized nomenclature, improved experimental design, transparent reporting, data sharing, and centralized repositories. The ARRIVE guidelines outline documentation standards for laboratory animals in experiments, but genetic information is often incomplete. To remedy this, we propose the Laboratory Animal Genetic Reporting (LAG-R) framework. LAG-R aims to document animals' genetic makeup in scientific publications, providing essential details for replication and appropriate model use. While verifying complete genetic compositions may be impractical, better reporting and validation efforts enhance reliability of research. LAG-R standardization will bolster reproducibility, peer review, and overall scientific rigor.
Topics: Animals; Animals, Laboratory; Guidelines as Topic; Reproducibility of Results; Research Design; Animal Experimentation; Biomedical Research
PubMed: 38956430
DOI: 10.1038/s41467-024-49439-y -
Scientific Reports Jul 2024Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are responsible for the majority of X-linked retinitis pigmentosa cases, which not only affects male...
Variants in the retinitis pigmentosa GTPase regulator (RPGR) gene are responsible for the majority of X-linked retinitis pigmentosa cases, which not only affects male patients but also some heterozygous females. Vision-related disability and anxiety of patients with RPGR-associated retinal degeneration have never been explored before. This study aimed to evaluate self-reported visual function and vision-related anxiety in a Portuguese cohort of male and female patients with RPGR-associated retinal degeneration using two validated patient-reported outcome measures. Cross-sectional data of thirty-two genetically-tested patients was examined, including scores of the Michigan retinal degeneration questionnaire (MRDQ) and Michigan vision-related anxiety questionnaire. Patients were classified according to retinal phenotypes in males (M), females with male phenotype (FM), and females with radial or focal pattern. Both M and FM revealed higher rod-function and cone-function anxiety scores (p < 0.017). Most MRDQ disability scores were higher in M and FM (p < 0.004). Overall, positive correlations (p < 0.004) were found between every MRDQ domain and both anxiety scores. In RPGR-associated retinal degeneration, males and females with male phenotype show similar levels of increased vision-related anxiety and disability. Every MRDQ visual function domain showed a strong correlation with anxiety scores.
Topics: Humans; Male; Female; Adult; Middle Aged; Anxiety; Self Report; Retinal Degeneration; Eye Proteins; Cross-Sectional Studies; Retinitis Pigmentosa; Aged; Phenotype; Young Adult; Surveys and Questionnaires
PubMed: 38956231
DOI: 10.1038/s41598-024-66170-2 -
EMBO Reports Jul 2024Signals emanating from the T-cell receptor (TCR), co-stimulatory receptors, and cytokine receptors each influence CD8 T-cell fate. Understanding how these signals...
Signals emanating from the T-cell receptor (TCR), co-stimulatory receptors, and cytokine receptors each influence CD8 T-cell fate. Understanding how these signals respond to homeostatic and microenvironmental cues can reveal new ways to therapeutically direct T-cell function. Through forward genetic screening in mice, we discover that loss-of-function mutations in LDL receptor-related protein 10 (Lrp10) cause naive and central memory CD8 T cells to accumulate in peripheral lymphoid organs. Lrp10 encodes a conserved cell surface protein of unknown immunological function. T-cell activation induces Lrp10 expression, which post-translationally suppresses IL7 receptor (IL7R) levels. Accordingly, Lrp10 deletion enhances T-cell homeostatic expansion through IL7R signaling. Lrp10-deficient mice are also intrinsically resistant to syngeneic tumors. This phenotype depends on dense tumor infiltration of CD8 T cells, which display increased memory cell characteristics, reduced terminal exhaustion, and augmented responses to immune checkpoint inhibition. Here, we present Lrp10 as a new negative regulator of CD8 T-cell homeostasis and a host factor that controls tumor resistance with implications for immunotherapy.
PubMed: 38956225
DOI: 10.1038/s44319-024-00191-w -
Scientific Reports Jul 2024KCNQ4 is a voltage-gated K channel was reported to distribute over the basolateral surface of type 1 vestibular hair cell and/or inner surface of calyx and heminode of...
KCNQ4 is a voltage-gated K channel was reported to distribute over the basolateral surface of type 1 vestibular hair cell and/or inner surface of calyx and heminode of the vestibular nerve connected to the type 1 vestibular hair cells of the inner ear. However, the precise localization of KCNQ4 is still controversial and little is known about the vestibular phenotypes caused by KCNQ4 dysfunction or the specific role of KCNQ4 in the vestibular organs. To investigate the role of KCNQ4 in the vestibular organ, 6-g hypergravity stimulation for 24 h, which represents excessive mechanical stimulation of the sensory epithelium, was applied to p.W277S Kcnq4 transgenic mice. KCNQ4 was detected on the inner surface of calyx of the vestibular afferent in transmission electron microscope images with immunogold labelling. Vestibular function decrease was more severe in the Kcnq4 mice than in the Kcnq4 and Kcnq4 mice after the stimulation. The vestibular function loss was resulted from the loss of type 1 vestibular hair cells, which was possibly caused by increased depolarization duration. Retigabine, a KCNQ activator, prevented hypergravity-induced vestibular dysfunction and hair cell loss. Patients with KCNQ4 mutations also showed abnormal clinical vestibular function tests. These findings suggest that KCNQ4 plays an essential role in calyx and afferent of type 1 vestibular hair cell preserving vestibular function against excessive mechanical stimulation.
Topics: Animals; KCNQ Potassium Channels; Hair Cells, Vestibular; Mice; Mice, Transgenic; Phenylenediamines; Carbamates; Vestibule, Labyrinth
PubMed: 38956136
DOI: 10.1038/s41598-024-66115-9 -
Scientific Reports Jul 2024Pediatric cardiomyopathies are mostly attributed to variants in sarcomere-related genes. Unfortunately, the genetic architecture of pediatric cardiomyopathies has never...
Pediatric cardiomyopathies are mostly attributed to variants in sarcomere-related genes. Unfortunately, the genetic architecture of pediatric cardiomyopathies has never been previously studied in Jordan. We sought to uncover the genetic landscape of 14 patients from nine families with several subtypes of pediatric cardiomyopathies in Jordan using Exome sequencing (ES). Our investigation identified pathogenic and likely pathogenic variants in seven out of nine families (77.8%), clustering in sarcomere-related genes. Surprisingly, phenocopies of sarcomere-related hypertrophic cardiomyopathies were evident in probands with glycogen storage disorder and mitochondrial-related disease. Our study underscored the significance of streamlining ES or expanding cardiomyopathy-related gene panels to identify plausible phenocopies of sarcomere-related cardiomyopathies. Our findings also pointed out the need for genetic testing in patients with cardiomyopathy and their at-risk family members. This can potentially lead to better management strategies, enabling early interventions, and ultimately enhancing their prognosis. Finally, our findings provide an initial contribution to the currently absent knowledge about the molecular underpinnings of cardiomyopathies in Jordan.
Topics: Humans; Jordan; Male; Female; Sarcomeres; Child; Cardiomyopathies; Pedigree; Child, Preschool; Exome Sequencing; Infant; Phenotype; Adolescent; Mutation; Genetic Testing
PubMed: 38956129
DOI: 10.1038/s41598-024-64921-9 -
Nature Communications Jul 2024
PubMed: 38956107
DOI: 10.1038/s41467-024-49938-y -
Scientific Reports Jul 2024Across vertebrates, adaptive behaviors, like feeding and avoiding predators, are linked to lateralized brain function. The presence of the behavioral manifestations of...
Across vertebrates, adaptive behaviors, like feeding and avoiding predators, are linked to lateralized brain function. The presence of the behavioral manifestations of these biases are associated with increased task success. Additionally, when an individual's direction of bias aligns with the majority of the population, it is linked to social advantages. However, it remains unclear if behavioral biases in humans correlate with the same advantages. This large-scale study (N = 313-1661, analyses dependent) examines whether the strength and alignment of behavioral biases associate with cognitive and social benefits respectively in humans. To remain aligned with the animal literature, we evaluate motor-sensory biases linked to motor-sequencing and emotion detection to assess lateralization. Results reveal that moderate hand lateralization is positively associated with task success and task success is, in turn, associated with language fluency, possibly representing a cascade effect. Additionally, like other vertebrates, the majority of our human sample possess a 'standard' laterality profile (right hand bias, left visual bias). A 'reversed' profile is rare by comparison, and associates higher self-reported social difficulties and increased rate of autism and/or attention deficit hyperactivity disorder. We highlight the importance of employing a comparative theoretical framing to illuminate how and why different laterization profiles associate with diverging social and cognitive phenotypes.
Topics: Humans; Cognition; Male; Female; Functional Laterality; Adult; Young Adult; Adolescent; Social Skills; Middle Aged; Emotions
PubMed: 38956070
DOI: 10.1038/s41598-024-64372-2 -
Translational Psychiatry Jul 2024The Addictions Neuroclinical Assessment (ANA) is a neurobiologically-informed framework designed to understand the etiology and heterogeneity of Alcohol Use Disorder... (Observational Study)
Observational Study
The Addictions Neuroclinical Assessment (ANA) is a neurobiologically-informed framework designed to understand the etiology and heterogeneity of Alcohol Use Disorder (AUD). Previous studies validated the three neurofunctional domains of ANA: Incentive Salience (IS), Negative Emotionality (NE) and Executive Function (EF) using secondary data. The present cross-sectional observational study assessed these domains in an independent, prospective clinical sample. Adults across the drinking spectrum (N = 300) completed the ANA battery, a standardized collection of behavioral tasks and self-report assessments. Factor analyses were used to identify latent factors underlying each domain. Associations between identified domain factors were evaluated using structural equation models. Receiver operating characteristics analyses were used to determine factors with the strongest ability to classify individuals with problematic drinking and AUD. We found (1) two factors underlie the IS domain: alcohol motivation and alcohol insensitivity. (2) Three factors were identified for the NE domain: internalizing, externalizing, and psychological strength. (3) Five factors were found for the EF domain: inhibitory control, working memory, rumination, interoception, and impulsivity. (4) These ten factors showed varying degrees of cross-correlations, with alcohol motivation, internalizing, and impulsivity exhibiting the strongest correlations. (5) Alcohol motivation, alcohol insensitivity, and impulsivity showed the greatest ability in classifying individuals with problematic drinking and AUD. Thus, the present study identified unique factors underlying each ANA domain assessed using a standardized assessment battery. These results revealed additional dimensionality to the ANA domains, bringing together different constructs from the field into a single cohesive framework and advancing the field of addiction phenotyping. Future work will focus on identifying neurobiological correlates and identifying AUD subtypes based on these factors.
Topics: Humans; Male; Female; Adult; Cross-Sectional Studies; Alcoholism; Executive Function; Neuropsychological Tests; Motivation; Middle Aged; Prospective Studies; Impulsive Behavior; Young Adult; Behavior, Addictive; Emotions; Factor Analysis, Statistical
PubMed: 38956031
DOI: 10.1038/s41398-024-02987-9 -
Saudi Medical Journal Jul 2024L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare disorder. The patients have psychomotor retardation, ataxia, macrocephaly, and epilepsy usually in childhood. We present...
L-2-Hydroxyglutaric aciduria (L-2-HGA) is a rare disorder. The patients have psychomotor retardation, ataxia, macrocephaly, and epilepsy usually in childhood. We present a case of L-2-HGA who developed dystonia in the third decade of life. The family reported symptoms of progressive psychomotor regression since childhood. On assessment, the patient had mild impairment of higher mental functions, mild exotropia, and right-hand dystonia. Brain MRI revealed diffuse bilateral symmetrical subcortical white matter hyperintense signals. 2-hydroxyglutaric acid in urine was elevated and the whole genome sequencing revealed a homogeneous pathogenic variant of the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. The prognosis was explained to the caregivers. Patients with mild phenotype L-2-HGA can remain undiagnosed until adulthood. Cases of dystonia even without complaints of epilepsy should be investigated by MRI -brain, urine test and genetic testing to rule out L-2-HGA.
Topics: Humans; Magnetic Resonance Imaging; Dystonic Disorders; Adult; Male; Alcohol Oxidoreductases; Female; Brain Diseases, Metabolic, Inborn
PubMed: 38955445
DOI: 10.15537/smj.2024.45.7.20230325