Predictive analysis of groundwater balance and assessment of safe yield using a probabilistic groundwater model for the Dead Sea Basin

IntroductionGroundwater in the Middle East and North Africa region is a critical component of the water supply budget due to a (semi-)arid climate and hence limited surface water resources. Despite the significance, factors affecting the groundwater balance and overall sustainability of the resource are often poorly understood. This often includes recharge and discharge characteristics, groundwater extraction and impacts of climate change. The present study investigates the groundwater balance in the Dead Sea Basin aquifer in Jordan using a groundwater flow model developed using the MODFLOW.MethodsThe study aimed to simulate groundwater balance components and their effect on estimation of the aquifer's safe yield, and to also undertake a preliminary analysis of the impact of climate change on groundwater levels in the aquifer. Model calibration and predictive analysis was undertaken using a probabilistic modeling workflow. Spatially heterogeneous groundwater recharge for the historical period was estimated as a function of rainfall by simultaneously calibrating the recharge and aquifer hydraulic property parameters.Results and discussionThe model indicated that annual average recharge constituted 5.1% of the precipitation over a simulation period of 6 years. The effect of groundwater recharge and discharge components were evaluated in the context of estimation of safe yield of the aquifer. The average annual safe yield is estimated as ~8.0 mm corresponding to the 80% of the calibrated recharge value. Simulated groundwater levels matched well with the declining trends in observed water levels which are indicative of unsustainable use. Long-term simulation of groundwater levels indicated that current conditions would result in large drawdown in groundwater levels by the end of the century. Simulation of climate change scenarios using projected estimates of rainfall and evaporation indicates that climate change scenarios would further exacerbate groundwater levels by relatively small amounts. These findings highlight the need to simulate the groundwater balance to better understand the water availability and future sustainability

Prompt lead exposure of aqueous environment biomonitored by photosynthetic bacteria

Anthropogenic activities including industrialization, urbanization and growth of population have significantly increased concerns about detrimental effects of pollutants on health and environment. Among the heavy metal ions, lead (II) ions are especially toxic and hazardous. Here, we report the application of purple photosynthetic bacteria in biomonitoring of lead pollution in aqueous habitats. The monitoring method is based on light absorption and fluorescence responses of living microorganism to prompt appearance of lead ions in the solution. The Pb(II) ions penetrate the cell membrane immediately, attack and (in few mM external concentration) destroy the light harvesting system together with the reaction center protein. As these bacteria may act as bioaccumulators of lead, they can be also used for bioremediation of contaminated cultures. The advantages using photosynthetic bacteria for monitoring and accumulating Pb(II) pollution in aqueous environmental compartments are presented in the paper

Android malicious attacks detection models using machine learning techniques based on permissions

The Android operating system is the most used mobile operating system in the world, and it is one of the most popular operating systems for different kinds of devices from smartwatches, IoT, and TVs to mobiles and cockpits in cars. Security is the main challenge to any operating system. Android malware attacks and vulnerabilities are known as emerging risks for mobile devices. The development of Android malware has been observed to be at an accelerated speed. Most Android security breaches permitted by permission misuse are amongst the most critical and prevalent issues threatening Android OS security. This research performs several studies on malware and non-malware applications to provide a recently updated dataset. The goal of proposed models is to find a combination of noise-cleaning algorithms, features selection techniques, and classification algorithms that are noise-tolerant and can achieve high accuracy results in detecting new Android malware. The results from the empirical experiments show that the proposed models are able to detect Android malware with an accuracy that reaches 87%, despite the noise in the dataset. We also find that the best classification results are achieved using the RF algorithm. This work can be extended in many ways by applying higher noise ratios and running more classifiers and optimizers

Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.

Primary familial brain calcification (PFBC) is a rare neurodegenerative disorder characterized by a combination of neurological, psychiatric, and cognitive decline associated with calcium deposition on brain imaging. To date, mutations in five genes have been linked to PFBC. However, more than 50% of individuals affected by PFBC have no molecular diagnosis. We report four unrelated families presenting with initial learning difficulties and seizures and later psychiatric symptoms, cerebellar ataxia, extrapyramidal signs, and extensive calcifications on brain imaging. Through a combination of homozygosity mapping and exome sequencing, we mapped this phenotype to chromosome 21q21.3 and identified bi-allelic variants in JAM2. JAM2 encodes for the junctional-adhesion-molecule-2, a key tight-junction protein in blood-brain-barrier permeability. We show that JAM2 variants lead to reduction of JAM2 mRNA expression and absence of JAM2 protein in patient's fibroblasts, consistent with a loss-of-function mechanism. We show that the human phenotype is replicated in the jam2 complete knockout mouse (jam2 KO). Furthermore, neuropathology of jam2 KO mouse showed prominent vacuolation in the cerebral cortex, thalamus, and cerebellum and particularly widespread vacuolation in the midbrain with reactive astrogliosis and neuronal density reduction. The regions of the human brain affected on neuroimaging are similar to the affected brain areas in the myorg PFBC null mouse. Along with JAM3 and OCLN, JAM2 is the third tight-junction gene in which bi-allelic variants are associated with brain calcification, suggesting that defective cell-to-cell adhesion and dysfunction of the movement of solutes through the paracellular spaces in the neurovascular unit is a key mechanism in CNS calcification

Deep face recognition using imperfect facial data

YesToday, computer based face recognition is a mature and reliable mechanism which is being practically utilised for many access control scenarios. As such, face recognition or authentication is predominantly performed using ‘perfect’ data of full frontal facial images. Though that may be the case, in reality, there are numerous situations where full frontal faces may not be available — the imperfect face images that often come from CCTV cameras do demonstrate the case in point. Hence, the problem of computer based face recognition using partial facial data as probes is still largely an unexplored area of research. Given that humans and computers perform face recognition and authentication inherently differently, it must be interesting as well as intriguing to understand how a computer favours various parts of the face when presented to the challenges of face recognition. In this work, we explore the question that surrounds the idea of face recognition using partial facial data. We explore it by applying novel experiments to test the performance of machine learning using partial faces and other manipulations on face images such as rotation and zooming, which we use as training and recognition cues. In particular, we study the rate of recognition subject to the various parts of the face such as the eyes, mouth, nose and the cheek. We also study the effect of face recognition subject to facial rotation as well as the effect of recognition subject to zooming out of the facial images. Our experiments are based on using the state of the art convolutional neural network based architecture along with the pre-trained VGG-Face model through which we extract features for machine learning. We then use two classifiers namely the cosine similarity and the linear support vector machines to test the recognition rates. We ran our experiments on two publicly available datasets namely, the controlled Brazilian FEI and the uncontrolled LFW dataset. Our results show that individual parts of the face such as the eyes, nose and the cheeks have low recognition rates though the rate of recognition quickly goes up when individual parts of the face in combined form are presented as probes

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Purpose: The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11 (c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families. Methods: To investigate the genetic cause of the disease, exome or genome sequencing were performed in 5 unrelated families identified via different research networks and Matchmaker Exchange. Deep clinical and brain imaging evaluations were performed by clinical pediatric neurologists and neuroradiologists. The functional effect of the candidate variant on both MED11 RNA and protein was assessed using reverse transcriptase polymerase chain reaction and western blotting using fibroblast cell lines derived from 1 affected individual and controls and through computational approaches. Knockouts in zebrafish were generated using clustered regularly interspaced short palindromic repeats/Cas9. Results: The disease was characterized by microcephaly, profound neurodevelopmental impairment, exaggerated startle response, myoclonic seizures, progressive widespread neurodegeneration, and premature death. Functional studies on patient-derived fibroblasts did not show a loss of protein function but rather disruption of the C-terminal of MED11, likely impairing binding to other MED subunits. A zebrafish knockout model recapitulates key clinical phenotypes. Conclusion: Loss of the C-terminal of MED subunit 11 may affect its binding efficiency to other MED subunits, thus implicating the MED-complex stability in brain development and neurodegeneration

Inhibition of G-protein signalling in cardiac dysfunction of intellectual developmental disorder with cardiac arrhythmia (IDDCA) syndrome

Background: Pathogenic variants of GNB5 encoding the β5 subunit of the guanine nucleotide-binding protein cause IDDCA syndrome, an autosomal recessive neurodevelopmental disorder associated with cognitive disability and cardiac arrhythmia, particularly severe bradycardia. Methods: We used echocardiography and telemetric ECG recordings to investigate consequences of Gnb5 loss in mouse. Results: We delineated a key role of Gnb5 in heart sinus conduction and showed that Gnb5-inhibitory signalling is essential for parasympathetic control of heart rate (HR) and maintenance of the sympathovagal balance. Gnb5-/- mice were smaller and had a smaller heart than Gnb5+/+ and Gnb5+/-, but exhibited better cardiac function. Lower autonomic nervous system modulation through diminished parasympathetic control and greater sympathetic regulation resulted in a higher baseline HR in Gnb5-/- mice. In contrast, Gnb5-/- mice exhibited profound bradycardia on treatment with carbachol, while sympathetic modulation of the cardiac stimulation was not altered. Concordantly, transcriptome study pinpointed altered expression of genes involved in cardiac muscle contractility in atria and ventricles of knocked-out mice. Homozygous Gnb5 loss resulted in significantly higher frequencies of sinus arrhythmias. Moreover, we described 13 affected individuals, increasing the IDDCA cohort to 44 patients. Conclusions: Our data demonstrate that loss of negative regulation of the inhibitory G-protein signalling causes HR perturbations in Gnb5-/- mice, an effect mainly driven by impaired parasympathetic activity. We anticipate that unravelling the mechanism of Gnb5 signalling in the autonomic control of the heart will pave the way for future drug screening

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Axon pathfinding and synapse formation are essential processes for nervous system development and function. The assembly of myelinated fibres and nodes of Ranvier is mediated by a number of cell adhesion molecules of the immunoglobulin superfamily including neurofascin, encoded by the NFASC gene, and its alternative isoforms Nfasc186 and Nfasc140 (located in the axonal membrane at the node of Ranvier) and Nfasc155 (a glial component of the paranodal axoglial junction). We identified 10 individuals from six unrelated families, exhibiting a neurodevelopmental disorder characterized with a spectrum of central (intellectual disability, developmental delay, motor impairment, speech difficulties) and peripheral (early onset demyelinating neuropathy) neurological involvement, who were found by exome or genome sequencing to carry one frameshift and four different homozygous non-synonymous variants in NFASC. Expression studies using immunostaining-based techniques identified absent expression of the Nfasc155 isoform as a consequence of the frameshift variant and a significant reduction of expression was also observed in association with two non-synonymous variants affecting the fibronectin type III domain. Cell aggregation studies revealed a severely impaired Nfasc155-CNTN1/CASPR1 complex interaction as a result of the identified variants. Immunofluorescence staining of myelinated fibres from two affected individuals showed a severe loss of myelinated fibres and abnormalities in the paranodal junction morphology. Our results establish that recessive variants affecting the Nfasc155 isoform can affect the formation of paranodal axoglial junctions at the nodes of Ranvier. The genetic disease caused by biallelic NFASC variants includes neurodevelopmental impairment and a spectrum of central and peripheral demyelination as part of its core clinical phenotype. Our findings support possible overlapping molecular mechanisms of paranodal damage at peripheral nerves in both the immune-mediated and the genetic disease, but the observation of prominent central neurological involvement in NFASC biallelic variant carriers highlights the importance of this gene in human brain development and function

Bi-allelic genetic variants in the translational GTPases GTPBP1 and GTPBP2 cause a distinct identical neurodevelopmental syndrome

The homologous genes GTPBP1 and GTPBP2 encode GTP-binding proteins 1 and 2, which are involved in ribosomal homeostasis. Pathogenic variants in GTPBP2 were recently shown to be an ultra-rare cause of neurodegenerative or neurodevelopmental disorders (NDDs). Until now, no human phenotype has been linked to GTPBP1. Here, we describe individuals carrying bi-allelic GTPBP1 variants that display an identical phenotype with GTPBP2 and characterize the overall spectrum of GTP-binding protein (1/2)-related disorders. In this study, 20 individuals from 16 families with distinct NDDs and syndromic facial features were investigated by whole-exome (WES) or whole-genome (WGS) sequencing. To assess the functional impact of the identified genetic variants, semi-quantitative PCR, western blot, and ribosome profiling assays were performed in fibroblasts from affected individuals. We also investigated the effect of reducing expression of CG2017, an ortholog of human GTPBP1/2, in the fruit fly Drosophila melanogaster. Individuals with bi-allelic GTPBP1 or GTPBP2 variants presented with microcephaly, profound neurodevelopmental impairment, pathognomonic craniofacial features, and ectodermal defects. Abnormal vision and/or hearing, progressive spasticity, choreoathetoid movements, refractory epilepsy, and brain atrophy were part of the core phenotype of this syndrome. Cell line studies identified a loss-of-function (LoF) impact of the disease-associated variants but no significant abnormalities on ribosome profiling. Reduced expression of CG2017 isoforms was associated with locomotor impairment in Drosophila. In conclusion, bi-allelic GTPBP1 and GTPBP2 LoF variants cause an identical, distinct neurodevelopmental syndrome. Mutant CG2017 knockout flies display motor impairment, highlighting the conserved role for GTP-binding proteins in CNS development across species