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Objective: Optic nerve head abnormalities have been reported in some patients with congenital fibrosis of the extraocular muscles (CFEOM). This study prospectively assesses optic nerve head appearance in a consecutive CFEOM cohort. Methods: All patients with CFEOM referred between 2006 and 2010 and who were mature enough to cooperate with fundus photography were included. Fundus photographs were reviewed with attention to optic nerve head features (eg, cupping >0.6, asymmetric cupping >0.3, optic nerve hypoplasia). Interested participants had CFEOM candidate gene analysis ( KIF21A, TUBB3, PHOX2A) for genetic counseling purposes. Results: Ten CFEOM patients (five CFEOM1, five CFEOM3, age range 5--23 years) from eight families (all consanguineous but one) participated. All 10 patients had notable disc excavation (5) or optic nerve hypoplasia (5). CFEOM candidate gene analysis was performed in all patients and revealed a heterozygous p.R954W KIF21A mutation only in the patient who was not from a consanguineous family. Conclusions: Our observations suggest the optic nerve head can be affected by the orbital dysinnervation that occurs in CFEOM. Because careful clinical optic nerve head assessment is difficult in young patients with CFEOM and associated large angle incomitant strabismus, optic nerve head abnormalities may be under-diagnosed. The absence of mutations in known CFEOM genes in our cohort of consanguineous families suggests further genetic heterogeneity of this group of conditions. [ABSTRACT FROM AUTHOR]

Heat shock proteins are ubiquitous, induced under a number of environmental and metabolic stresses, with highly conserved DNA sequences among mammalian species. Camelus dromedaries (the Arabian camel) domesticated under semi-desert environments, is well adapted to tolerate and survive against severe drought and high temperatures for extended periods. This is the first report of molecular cloning and characterization of full length cDNA of encoding a putative stress-induced heat shock HSPA6 protein (also called HSP70B') from Arabian camel. A full-length cDNA (2417 bp) was obtained by rapid amplification of cDNA ends (RACE) and cloned in pET-b expression vector. The sequence analysis of HSPA6 gene showed 1932 bp-long open reading frame encoding 643 amino acids. The complete cDNA sequence of the Arabian camel HSPA6 gene was submitted to NCBI GeneBank (accession number HQ214118.1). The BLAST analysis indicated that C. dromedaries HSPA6 gene nucleotides shared high similarity (77-91%) with heat shock gene nucleotide of other mammals. The deduced 643 amino acid sequences (accession number ADO12067.1) showed that the predicted protein has an estimated molecular weight of 70.5 kDa with a predicted isoelectric point (pI) of 6.0. The comparative analyses of camel HSPA6 protein sequences with other mammalian heat shock proteins (HSPs) showed high identity (80-94%). Predicted camel HSPA6 protein structure using Protein 3D structural analysis high similarities with human and mouse HSPs. Taken together, this study indicates that the cDNA sequences of HSPA6 gene and its amino acid and protein structure from the Arabian camel are highly conserved and have similarities with other mammalian species. [ABSTRACT FROM AUTHOR]

Abstract: The Red Sea Rift, an archetype of a newly formed ocean basin, is an ideal environment in which to study the controversial processes associated with continental rifting. Different models have been proposed to explain how rifting in the Red Sea evolved; however, accurate constraints on lithospheric structure have not been available to discriminate rifting models. We use the S-wave receiver function technique to produce the first images of the lithosphere–asthenosphere boundary (LAB) structure along the Red Sea and throughout the Arabian Peninsula. Lithospheric thickness varies considerably, with thin lithosphere centered on the rift axis, thickening toward the Arabian interior. Gravity data are well fit by our structural model and indicate that high surface topography along the rift flank is not in isostatic equilibrium, requiring dynamic compensation for its support. While our derived structure is consistent with active rifting processes, previous studies demonstrated that the Red Sea initiated as a passive rift. Therefore, our results suggest a two-stage rifting history, where extension and erosion by flow in the underlying asthenosphere are responsible for variations in LAB depth. LAB topography guides asthenospheric flow beneath western Arabia and the Red Sea, demonstrating the important role lithospheric variations play in the thermal modification of tectonic environments. [Copyright &y& Elsevier]

Wheat is one of the leading staple crops in many countries. Phosphorus (P) plays an important role for wheat growth and yield as it takes part in many metabolic pathways. Even for soluble phosphatic fertilizers, most of the Pakistani soils, being alkaline and calcareous in nature, show phosphorus use efficiency (PUE) not more than 10–25%. The major issue is the unavailability of P due to fixation and precipitation reactions with soil particles. Composting of rock-phosphate with animal and poultry manures supplied with bio-stimulated phosphate solubilizing bacteria (PSB) not only enhances the RP solubilization but also serves as a potent source of P for plants. Composted/bio-activated rock-phosphate (B-RP), prepared by group of three bacterial strains i.e., Pseudomonas sp. (E11), Bacillus sp. (MN54) and Enterobacter sp. (MN17) aided with molasses (5%) and urea (10%), was tested alone and in various combinations with di-ammonium phosphate (DAP). In this pot trial, the combined application of B-RP and DAP was found superior to the sole application of B-RP. Even the combination of B-RP and DAP sharing equal amount of recommended P showed better results as compared to the sole application of DAP, giving improved shoot biomass (25%), total P-uptake (67%), recovery efficiency of P (75%), dry matter (29%), crude protein (29%), and other yield, physiological and nutritional quality parameters of wheat. So, it could be concluded that integrated use of B-RP and DAP with equal proportion of recommended P could serve as a better management practice for not only improving quantity but also the quality of the wheat grain. [ABSTRACT FROM AUTHOR]

Studies the lithosperic structure of the Arabian shield and platform from regional waveform modelling and surface wave velocities. Indication of the lithospheric structures on the Arabian Platform crustal thickness; Composition of the Arabian Platform crust; Implication of the Poisson ratio on the Arabian shield associated with Red Sea for continental volcanism.

• Arsenic (As) impaired growth and development of Vicia faba plants. • Mel pus Ca2+ suppressed As-induced program cell death in guard cells, roots and leaves. • Mel and Ca2+ improved photosynthesis, and biosynthesis of chlorophyll, carbohydrates, and proline. • Mel and Ca2+ alleviated As-induced DNA damage, and reactive oxygen species formation. • Mel and Ca2+ regulated ascorbate-glutathione pathway and proteins expression under As stress. The interplay between melatonin (Mel) and calcium (Ca2+) in enhancing tolerance to metalloid toxicity and underlying physiological and biochemical mechanisms of this relationship still remains unknown. The present study reveals that the signaling molecules Mel and/or Ca2+ enhanced tolerance of Vicia faba (cv. Tara) plant to metalloid arsenic (As) toxicity. However, a combination of Mel and Ca2+ was more efficient than alone. Plants grew with As exhibited enhanced hydrogen peroxide, superoxide anion, electrolyte leakage, lipid peroxidation together with increased reactive oxygen species (ROS) producing enzymes, such as NADPH oxidase and glycolate oxidase (GOX). On the contrary, an inhibition in chlorophyll (Chl) biosynthesis and gas exchange parameters (net photosynthetic rate, stomatal conductance, intercellular carbon dioxide concentration) was observed. Under As toxicity conditions, the application of Mel and Ca2+ synergistically suppressed the plants' program cell death features (nucleus condensation and nucleus fragmentation) in guard cells of stomata, DNA damage, and formation of ROS in guard cells, leaves and roots. Moreover, it enhanced gas exchange parameters and activity of enzymes involved in photosynthesis process (carbonic anhydrase and RuBisco), Chl biosynthesis (δ -aminolevulinic acid dehydratase), and decreased activity of Chl degrading enzyme (chlorophyllase) under As toxicity conditions. Our investigation evidently established that expression of ATP synthase, Ca2+-ATPase, Ca2+-DPKase, Hsp17.6 and Hsp40 was found maximum in the plants treated with Mel + Ca2+, resulting in higher tolerance of plants to As stress. Also, increased total soluble carbohydrates, cysteine, and Pro accumulation with increased Pro synthesizing enzyme (Δ 1 -pyrroline-5-carboxylate synthetase (P5CS) and decreased Pro degrading enzyme (proline dehydrogenase) in Mel + Ca2+ treated plants conferred As toxicity tolerance. The obtained results postulate strong evidence that the application of Mel along with Ca2+ enhances resilience against As toxicity by upregulating the activity of plasma membrane H+-ATPase, enzymes involved in antioxidant system, and ascorbate-glutathione pathway. [ABSTRACT FROM AUTHOR]

Rock varnishes are μm-thin, dark, manganese(Mn)-rich crusts that accrete in the order of few μm/ka on weathering-resistant lithologies. Although these crusts can form in all climates, they are best known in arid to semi-arid settings. Aeolian dust is understood as a major contributor to the distinct trace metal and REE enrichments in rock varnish. However, the exact proportions of abiotic and biotic formation mechanisms that may explain the oxidation-reactions of Mn2+ to Mn4+, present as Mn oxyhydroxides in the varnish, are still a matter of ongoing debate. We present here the first systematic study of trace element enrichment processes between the uppermost layer of the varnish sequence and their adjacent <50 μm and >50 μm dust fractions across a selection of 41 major and trace elements. This approach is used to investigate samples from three fully arid deserts: the An Nafud in Saudi Arabia, the Negev in Israel, and the Mojave in the USA, which are compared to the significantly different environment of the semi-arid Knersvlakte in South Africa. A new in situ trace element analysis protocol was developed to perform femto- and nanosecond sector-field LA-ICP-MS microanalyses at high-spatial resolution, which allows us to measure the most recent varnish layers for their comparison with recent dust. In agreement with previous studies, all varnishes are enriched in Mn, Pb, Ce, Co, Ba, Zn, Ni, and the Rare-Earth Elements (REE). Here we demonstrate that fine (<50 μm) dust is characterized by similar trace element trends as the varnishes, at overall lower mass fractions. Dust >50 μm has low trace element mass fractions, and enrichment patterns plotting distinctly away from varnish and fine dust. Based on these geochemical patterns, our results indicate a general enrichment mechanism from fine dust to varnish. Previous studies suggested dust to play an integral role in providing the trace elements that are incorporated into the varnish by pH-Eh fluctuations in short-term rain and fog events. We amalgamate and refine previous growth models by providing direct evidence that leaching of about 10% of the Mn and other trace elements from clay minerals in rain or fog droplets at pH ~5 and subsequent scavenging on varnish surfaces at pH ~8 leads integrated over time to the distinct enrichment patterns of the varnish, while initial Mn oxyhydroxide formation is suggested to follow pathways of metal oxide mediated photo-catalysis. For the semi-arid occurrence in the Knersvlakte we present a distinct growth model as both environment, varnish, and dust composition differ significantly from the arid settings. Here, thick, metallic-looking varnish occurs mainly on the rim of quartz pebbles, lacks microlamination, and likely has upscaled growth processes. Among other aspects, we suggest a more complex interplay between photo-catalysis, nocturnal condensation events on quartz pebbles with subsequent water trapping at the rock-soil-atmosphere interface, due to a salic top-soil layer, to mainly account for these differences. Unlabelled Image • First systematic study comparing youngest varnish layers to different fractions of recent dust • Higher similarity of varnish and fine dust excludes coarse fractions from varnish growth process. • Airborne and soil dust are geochemically alike, explaining similarities in varnishes from different geomorphological niches. • Differences between varnishes arise from environmental aspects, geomorphological position, and dust mineral assemblage. • Mn accumulation via 10% leaching from clays and metal-oxide-mediated photooxidation explain subaerial varnish growth. [ABSTRACT FROM AUTHOR]

Background: Toll‐like receptors play a substantial role in innate immunity and the effects of TLR4 genetic variants on cardiovascular diseases are still largely unknown. Therefore, we aimed to investigate the effects of TLR4 polymorphisms on cardiovascular diseases risk in the Saudi population. Methods: Three tag single‐nucleotide polymorphisms (rs2770150, rs10759931, and rs4986790) in TLR4 were studied on 222 unrelated patients with cardiovascular diseases and 190 healthy volunteers. Results: We found that, in patients over 60 years old, the frequency of the TT genotype in rs2770150 and the variant allele G in rs10759931 were higher compared to the control group. Based on gender, the genotype frequency of rs2770150 increases the risk for cardiovascular diseases in female patients by 3.6‐fold. The allele frequency for the G allele of rs10759931 increased the risk for CVDs in male patients by more than 1.5‐fold. Furthermore, the genotype frequency of rs2770150 had a significant association with cardiovascular diseases in patients without hypertension and G allele of rs10759931 significantly increased the risk of cardiovascular diseases in patients that smoked. After Bonferroni correction only patients without hypertension showed significant risk of CVD with rs2770150. Conclusion: A deeper understanding of the genetic variability of TLR4 will enable us to better identification of biomarkers for early detection and prognosis, and also enhance the decision‐making process of treatments for cardiovascular diseases. [ABSTRACT FROM AUTHOR]

Background: Thymic stromal Lymphopoeitin (TSLP) is a key cytokine involved in inflammation and cancer progression. TSLP gene polymorphisms have been associated with increased susceptibility to cancer progression in different organs. We performed a control case study to examine the correlation of expression and polymorphisms of three nucleotides in TSLP with breast cancer (BC) risk in Saudi Arabian females. Materials and methods: The study was conducted on 116 healthy control subjects and 127 female patients with BC for the purpose of genotyping. Ten matching tissues provided data on immunohistochemistry to evaluate TSLP expression. Three SNPs (rs10043985, rs2289276, and rs3806933) were genotyped with TaqMan allelic discrimination assay. The patients' ages and estrogen receptor statuses were used to investigate the potential correlations between the different variations of TSLP genotypes and BC risk. Results: BC tissues expressed positive immuno‐staining for TSLP at a high rate compared to normal matching breast tissues. Malignant breast tumors exhibited higher TSLP expression than benign breast tumors. We also found that the rs3806933 (T) allele frequency decreased the risk of developing BC in the study population (OR = 0.356, p = 0.00027) significantly (0.356 times). Interestingly, statistical analysis revealed that the genotype mutant (AC) and the allele mutant (C) of rs10043985 within TSLP were significantly correlated with an increased BC risk (odds ratio [OR] = 4.762, confidence interval [CI] = 1.000–22.666, p = 0.03244; OR = 4.762, CI = 1.000–22.666, p = 0.03244; and OR = 4.575, CI = 0.975–21.464, p = 0.03516, respectively). In addition, the AC and AC + CC genotypes of TSLP rs10043985 were confirmed to be associated with an increased risk of BC risk in women aged above 48 years, compared with the AA genotype (AC and AC + CC vs. AA: OR = 9.468, CI = 0.493–181.768, p = 0.04537). Conclusion: The results reveal significant correlation between SNPs in TSLP and BC progression in Saudi Arabian female patients. [ABSTRACT FROM AUTHOR]

Melatonin, a natural agent, has multiple functions in animals as well as in plants. However, its possible roles in plants under abiotic stress are not clear. Nowadays, soil salinity is a major threat to global agriculture because a high soil salt content causes multiple stresses (hyperosmotic, ionic, and oxidative). Therefore, the aim of the present study was to explore: (1) the involvement of melatonin in biosynthesis of photosynthetic pigments and in regulation of photosynthetic enzymes, such as carbonic anhydrase (CA) and ribulose-1,5-bisphosphate carboxylase/oxygenase (Rubisco); (2) the role of melatonin in osmoregulation by proline and carbohydrate metabolism; and (3) the function of melatonin in the antioxidant defense system under salinity. Outcomes of the study reveal that under non-saline conditions, application of melatonin (20 and 50 µM) improved plant growth, viz. shoot length, root length, shoot fresh weight (FW), root FW, shoot dry weight (DW), root DW and leaf area and physio-biochemical parameters [chlorophyll (Chl) a and b, proline (Pro) and total soluble carbohydrates (TSC) content, and increased the activity of CA and Rubisco]. However, tomato seedlings treated with NaCl exhibited enhanced Chl degradation, electrolyte leakage (EL), malondialdehyde (MDA) and reactive oxygen species (ROS; superoxide and hydrogen peroxide). ROS were detected in leaf and root. Interestingly, application of melatonin improved plant growth and reduced EL, MDA and ROS levels through upregulation of photosynthesis enzymes (CA, Rubisco), antioxidant enzymes (superoxide dismutase, catalase, glutathione reductase and ascorbate reductase) and levels of non-enzymatic antioxidants [ascorbate (ASC) and reduced glutathione (GSH)], as well as by affecting the ASC—GSH cycle. Additionally, exogenous melatonin also improved osmoregulation by increasing the content of TSC, Pro and Δ1-pyrroline-5-carboxylate synthetase activity. These results suggest that melatonin has beneficial effects on tomato seedlings growth under both stress and non-stress conditions. Melatonin's role in tolerance to salt stress may be associated with the regulation of enzymes involved in photosynthesis, the antioxidant system, metabolism of proline and carbohydrate, and the ASC—GSH cycle. Also, melatonin could be responsible for maintaining the high ratios of GSH/GSSG and ASC/DHA. [ABSTRACT FROM AUTHOR]