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Objectives: This cross-sectional study aimed to evaluate the association between the vasoactive-inotropic score (VIS) and post-operative morbidity and mortality in pediatric patients undergoing cardiac surgery for congenital heart diseases (CHDs). Methodology: A cross-sectional study was conducted at the Pediatric Cardiac Intensive Care Unit (PCICU) of the National Institute of Cardiovascular Diseases, Karachi, Pakistan, between October 2021 and March 2022. A total of 101 children up to 18 years of age admitted to the PCICU were included in the analysis. Demographic characteristics and peri-operative variables were recorded, and VIS scores were collected to assess their association with post-surgery outcomes. A score of ≥15 was considered high, while a score <15 was considered low. Results: Among the 101 children included in the study, 49 (48.5%) were male and 52 (51.5%) were female, with a mean age of 7.45±2.81 years. Fifteen (14.9%) patients had a high VIS score during their ICU stay, while 86 patients had a low VIS score. Low cardiac output was the most common post-operative morbidity observed in 9 (8.9%) children, followed by hepatic dysfunction and acute kidney injury, each reported in 8 (7.9%) children. Significant associations were found between high VIS and hepatic dysfunction (p<0.001), acute kidney injury (p<0.001), low cardiac output (p<0.001), neurological dysfunction (p=0.016), and mortality (p<0.001). Conclusion: High VIS scores were significantly associated with poor short-term morbidity and mortality in children undergoing corrective surgery for CHDs. The VIS system can aid in predicting disease progression, severity, and outcomes in pediatric cardiac surgical patients. [ABSTRACT FROM AUTHOR]

Trichodes sedlaceki sedlaceki Winkler is newly recorded from Beshgram, Chitral, KPK, Pakistan. Both the genus and the species are new to this region. Figures of the habitus and the aedeagus, along with a distributional map, are presented. [ABSTRACT FROM AUTHOR]

Carpal tunnel syndrome (CTS) is a condition that affects the main nerves in the wrist area that causes numbness, tingling, and weakness in the hand and arm. CTS affects 5% of the general population and results in pain in the wrist due to repetitive use, most commonly affecting women and office workers. Conservative management of CTS includes neurodynamic modulation to promote median nerve gliding during upper limb movements to maintain normal function. However, evidence for the benefits of neurodynamic modulation found disparities, and hence, the effectiveness of neurodynamic modulation remains unclear. This study aimed to systematically review the current evidence from randomized controlled trials (RCTs) to establish the effectiveness of neurodynamic techniques as a non-surgical treatment option for CTS. Using the PRISMA guidelines, two authors searched four electronic databases, and studies were included if they conformed to pre-established eligibility criteria. Primary outcome measures included outcomes from the Boston carpal tunnel syndrome questionnaire, while secondary outcomes included nerve conduction velocity, pain, and grip strength. Quality assessment was completed using the Cochrane RoB2 form, and a meta-analysis was performed to assess heterogeneity. Twelve RCTs met our inclusion/exclusion criteria with assessments on 1003 participants in the treatment and control arms. High heterogeneity and some risks of bias were observed between studies, but the results of the meta-analysis showed a significant reduction in our primary outcome, the Boston carpal tunnel syndrome questionnaire-symptom severity scale (mean difference = −1.20, 95% CI [−1.72, −0.67], p < 0.00001) and the Boston carpal tunnel syndrome questionnaire-functional severity scale (mean difference = −1.06, 95% CI [−1.53, −0.60], p < 0.00001). Secondary outcomes such as sensory and motor conduction velocity increased significantly, while motor latency was significantly reduced, all positively favoring neurodynamic techniques. Pain was also significantly reduced, but grip strength was not significantly different. Our systematic review demonstrates significant benefits of neurodynamic modulation techniques to treat CTS and specifically that it reduces symptom severity, pain, and motor latency, while at the same time improving nerve conduction velocities. Hence, our study demonstrates a clear benefit of neurodynamic techniques to improve recovery CTS. [ABSTRACT FROM AUTHOR]

This paper reports the synthesis, structure, photophysical, and optoelectronic properties of five eight-coordinate Europium(III) ternary complexes, namely, [Eu(hth)3(L)2], bearing 4,4,5,5,6,6,6-heptafluoro-1-(2-thienyl)-1,3-hexanedione (hth) as a sensitizer and L = H2O (1), dpso (diphenyl sulphoxide, 2), dpsoCH3 (4,4′-dimethyl diphenyl sulfoxide, 3), dpsoCl (bis(4-chlorophenyl)sulphoxide, 4), and tppo (triphenylphosphine oxide, 5) as co-ligands. The NMR and the crystal structure analysis confirmed the eight-coordinate structures of the complexes in solution and in a solid state. Upon UV-excitation on the absorption band of the β-diketonate ligand hth, all complexes showed the characteristic bright red luminescence of the Europium ion. The tppo derivative (5) displayed the highest quantum yield (up to 66%). As a result, an organic light-emitting device, OLED, was fabricated with a multi-layered structure—ITO/MoO3/mCP/SF3PO:[complex 5] (10%)/TPBi:[complex 5] (10%)/TmPyPB/LiF/Al—using complex 5 as the emitting component. [ABSTRACT FROM AUTHOR]

For the boiler-turbine unit in power systems, a coordinated control structure plays a crucial role in maintaining the balance in supply and demand of energy, reducing pollutant emissions and optimizing energy efficiency. The matching requirements of the turbine and boiler, the wide range of load changes, and the cooperative operation of many devices in the power system pose many challenges to designing a coordinated control system for the boiler turbine system, thus making the control design a difficult task. In this paper, iterative learning control (ILC) is used to maintain the throttle pressure and megawatt output power of a boiler turbine at the desired set points by controlling the hybrid pattern design structure. Simulation results show that the proposed approach can maintain the desired set points, and the desired response can also be obtained faster by using the proposed approach compared to the ones available in the literature. [ABSTRACT FROM AUTHOR]

Spinal cord injury (SCI) is characterized by a complex and prolonged injury process that exacerbates the damage induced by the primary injury and inhibits the potential for regeneration. SCI frequently results in the devastating loss of neurological functions and thus has serious consequences on patient quality of life. Current treatments are limited and focus on early interventions for the acute management of complications. Therefore, the development of novel treatments targeting ongoing injury processes is required to improve SCI outcomes. We aimed to systematically review studies published in the last 10 years that examined experimental treatments with neuroregenerative and neuroprotective capabilities for the improvement of SCI. We analyzed treatments from 44 studies that were identified through a systematic literature search using three databases: PubMed, Web of Science and EMBASE (searched through Ovid). We performed a meta-analysis for Basso-Beattie-Bresnahan (BBB) locomotion test data and collected immunohistochemistry results to demonstrate neuroregenerative and neuroprotective properties of the treatments, respectively. The two treatments that illustrated the most significant improvements in functional recovery using the BBB test were the combined use of tetrahedral framework nucleic acid (tFNA) with neural stem cells (NSCs) and Fortasyn® Connect (FC) supplementation. Both treatments also attenuated secondary injury processes as demonstrated through immunohistochemistry. Combined tFNA with NSCs and FC supplementation are promising treatments for the improvement of SCI as they both demonstrate neuroregenerative and neuroprotective properties. Further pre-clinical testing is required to validate and determine the long-term efficacies of these treatments for the improvement of SCI. [ABSTRACT FROM AUTHOR]

• Co 3 O 4 nanosheets were produced as a carbon analog to engulf mesoporous TiO 2 particles as a heterostructured catalyst for OER. • The heterostructure efficiently performed OER with a 340 mV overpotential at 10 mA/cm2 and lasted up to 20 h. • This study can be expanded to develop heterostructured catalysts with different metal oxides and analyze their interaction with TiO 2 for water oxidation. 2D ultrathin Co 3 O 4 sheets are a promising new material with the potential to emulate the desirable properties of graphene-based materials for use in a wide range of electrochemical applications. Anode oxygen evolution reaction (OER) and its complex four-electron transfer mechanism is the subject of this investigation because of their potential relevance to the problem of industrial-scale hydrogen generation by water electrolysis. The development of long-lasting, efficient, and inexpensive electrocatalysts for the oxygen evolution process is thus of immediate importance. An interesting inorganic graphene counterpart was created in this study by synthesizing Co 3 O 4 nanosheets enclosing mesoporous spherical TiO 2 nanoparticles using economical and straightforward technique. With overpotential of 340 mV at 10 mA/cm2, the resultant catalyst was very long-lasting, continuing to function even after 20 h in an alkaline environment. The catalyst's synergistic interaction at the interface of the inorganic graphene counterpart is credited with its extraordinary activity, which was accompanied by a low Tafel slope value of 70 mV/dec and turnover frequencies (TOFs) reaching 0.025 sec -1 at an overpotential of 400 mV. The formation of a heterostructure between the Co 3 O 4 sheets and mesoporous spherical TiO 2 nanoparticles leads to interfacial electron transfer, resulting in an increase in the electron density of active metals. This elevated electron density, along with the altered electronic arrangement, enhanced electrical conductivity, and accelerated charge transfer, contributes to the improved catalytic activity of the catalyst compared to its individual components. [ABSTRACT FROM AUTHOR]

The brain-penetrant ATM inhibitor, AZD1390, promotes axon regeneration and functional recovery in preclinical models of spinal cord injury This study demonstrates that AZD1390, an orally bioavailable, brain-penetrant, potent, and highly selective inhibitor of ataxia-telangiectasia mutated (ATM), promotes dramatic recovery after spinal cord injury (SCI). Consistent with the suppression of pATM levels in AZD1390-treated animals, cholera toxin B tracing of axons showed that only oral AZD1390, but not KU-60019, promoted DC axon regeneration through the lesion site and into the rostral cord (Figure 2C,D). [Extracted from the article]

Traumatic brain injury (TBI) is one of the leading causes of morbidity, disability and mortality across all age groups globally. Currently, only palliative treatments exist, but these are suboptimal and do little to combat the progressive damage to the brain that occurs after a TBI. However, multiple experimental treatments are currently available that target the primary and secondary biochemical and cellular changes that occur after a TBI. Some of these drugs have progressed to clinical trials and are currently being evaluated for their therapeutic benefits in TBI patients. The aim of this study was to identify which drugs are currently being evaluated in clinical trials for TBI. A search of ClinicalTrials.gov was performed on 3 December 2021 and all clinical trials that mentioned "TBI" OR "traumatic brain injury" AND "drug" were searched, revealing 362 registered trials. Of the trials, 46 were excluded due to the drug not being mentioned, leaving 138 that were completed and 116 that were withdrawn. Although the studies included 267,298 TBI patients, the average number of patients per study was 865 with a range of 5–200,000. Of the completed studies, 125 different drugs were tested in TBI patients but only 7 drugs were used in more than three studies, including amantadine, botulinum toxin A and tranexamic acid (TXA). However, previous clinical studies using these seven drugs showed variable results. The current study concludes that clinical trials in TBI have to be carefully conducted so as to reduce variability across studies, since the severity of TBI and timing of therapeutic interventions were key aspects of trial success. [ABSTRACT FROM AUTHOR]

Since the rat DC injury model better recapitulates human SCI pathophysiology,1,5 the same profile of MMP-9 (Figure S10A) and MMP-12 (Figure S10B) mRNA expression was also observed. (D) Inhibition of MMP-9 and MMP-12 by oral AZD1236 attenuates mRNA levels of proinflammatory pain markers interleukin-1 (IL-1 ), tumour necrosis factor- (TNF- ) and interleukin-6 (IL-6) in the DC injury model. This study demonstrated that short-term inhibition of matrix metalloprotease (MMP)-9 and MMP-12 in both mouse and rat models of spinal cord injury (SCI) using the clinic-ready, orally bioavailable and specific inhibitor, AZD1236, attenuated injury-induced oedema, proinflammatory pain markers, pain sensation and blood-spinal cord barrier (BSCB) breakdown. (E) Inhibition of MMP-9 and MMP-12 by intrathecal AZD1236 also attenuates mRNA levels of proinflammatory pain markers IL-1 , TNF- and IL-6 in the DC injury model. [Extracted from the article]

Adaptor protein (AP) complexes mediate selective intracellular vesicular trafficking and polarized localization of somatodendritic proteins in neurons. Disease-causing alleles of various subunits of AP complexes have been implicated in several heritable human disorders, including intellectual disabilities (IDs). Here, we report two bi-allelic (c.737C>A [p.Pro246His] and c.1105A>G [p.Met369Val]) and eight de novo heterozygous variants (c.44G>A [p.Arg15Gln], c.103C>T [p.Arg35Trp], c.104G>A [p.Arg35Gln], c.229delC [p.Gln77Lys∗11], c.399_400del [p.Glu133Aspfs∗37], c.747G>T [p.Gln249His], c.928−2A>C [p.?], and c.2459C>G [p.Pro820Arg]) in AP1G1 , encoding gamma-1 subunit of adaptor-related protein complex 1 (AP1γ1), associated with a neurodevelopmental disorder (NDD) characterized by mild to severe ID, epilepsy, and developmental delay in eleven families from different ethnicities. The AP1γ1-mediated adaptor complex is essential for the formation of clathrin-coated intracellular vesicles. In silico analysis and 3D protein modeling simulation predicted alteration of AP1γ1 protein folding for missense variants, which was consistent with the observed altered AP1γ1 levels in heterologous cells. Functional studies of the recessively inherited missense variants revealed no apparent impact on the interaction of AP1γ1 with other subunits of the AP-1 complex but rather showed to affect the endosome recycling pathway. Knocking out ap1g1 in zebrafish leads to severe morphological defect and lethality, which was significantly rescued by injection of wild-type AP1G1 mRNA and not by transcripts encoding the missense variants. Furthermore, microinjection of mRNAs with de novo missense variants in wild-type zebrafish resulted in severe developmental abnormalities and increased lethality. We conclude that de novo and bi-allelic variants in AP1G1 are associated with neurodevelopmental disorder in diverse populations. [ABSTRACT FROM AUTHOR]

There is a significant public health concern regarding medical diagnosis errors, which are a major cause of mortality. Identifying the root cause of these errors is challenging, and even if one is identified, implementing an effective treatment to prevent their recurrence is difficult. Optimization-based analysis in healthcare data management is a reliable method for improving diagnostic precision. Analyzing healthcare data requires pre-classification and the identification of precise information for precision-oriented outcomes. This article introduces a Cooperative-Trivial State Fuzzy Processing method for significant data analysis with possible derivatives. Trivial State Fuzzy Processing operates on the principle of fuzzy logic-based processing applied to structured healthcare data, focusing on mitigating errors and uncertainties inherent in the data. The derivatives are aided by identifying and grouping diagnosis-related and irrelevant data. The proposed method mitigates invertible derivative analysis issues in similar data grouping and irrelevance estimation. In the grouping and detection process, recent knowledge of the diagnosis progression is exploited to identify the functional data for analysis. Such analysis improves the impact of trivial diagnosis data compared to a voluminous diagnosis history. The cooperative derivative states under different data irrelevance factors reduce trivial state errors in healthcare big data analysis. [ABSTRACT FROM AUTHOR]

Extracellular vesicles (EVs), including exosomes, microvesicles, and other lipid vesicles derived from cells, play a pivotal role in intercellular communication by transferring information between cells. EVs secreted by progenitor and stem cells have been associated with the therapeutic effects observed in cell-based therapies, and they also contribute to tissue regeneration following injury, such as in orthopaedic surgery cases. This review explores the involvement of EVs in nerve regeneration, their potential as drug carriers, and their significance in stem cell research and cell-free therapies. It underscores the importance of bioengineers comprehending and manipulating EV activity to optimize the efficacy of tissue engineering and regenerative therapies. [ABSTRACT FROM AUTHOR]

Spreading quickly throughout populations, whether animal or human-borne, infectious illnesses provide serious risks and difficulties. Controlling their spread and averting disinformation requires effective risk assessment and epidemic identification. Technology-enabled data analysis on diseases allows for quick solutions to these problems. A Combinational Data Assessment Scheme intended to accelerate disease detection is presented in this paper. The suggested strategy avoids duplicate data replication by sharing data among edge devices. It uses indexed data gathering to improve early detection by using tree classifiers to discern between various kinds of information. Both data similarity and index measurements are considered throughout the data analysis stage to minimize assessment errors. Accurate risk detection and assessment based on information kind and sharing frequency are ensured by comparing non-linear accumulations with accurate shared edge data. The suggested system exhibits high accuracy, low mistakes, and decreased data repetition to improve overall effectiveness in illness detection and risk reduction. [ABSTRACT FROM AUTHOR]

In the modern digital sphere, graph theory is a significant field of research that has a great deal of significance. It finds widespread application in computer science, robotic directions, and chemistry. Additionally, graph theory is used in robot network localization, computer network problems and the formation of various chemical structures for networks. Moreover, it finds uses in exploring diffusion mechanisms and scheduling aircraft as well. The present research project examines and concentrates on the edge version of metric dimension of the Concealed Non-Kekuléan Benzenoid Hydrocarbon, Polythiophene, Backbone DNA network and Bakelite networks. All the mentioned networks have constant edge metric dimension except Bakelite network, as demonstrated by the results. If we talk about the applications of these networks, Polythiophene are used to treat prion disorders. It is also capable of detecting metal ions. The concept of Bakelite, which finds applications in the jewelry, electrical, cookware, sports, and clock industries, had an impact on the invention of modern polymers. The functions of DNA include information encoding, replication, mutation, and recombination gene expression. [ABSTRACT FROM AUTHOR]

A partial notch loading technique for E-plane sidelobe reduction and gain enhancement of higher order TM30 and TM70 mode rectangular patch antennas is proposed. In this technique, out of phase surface current distribution regions of higher order TMm0 (m = 3, 7) mode patch antennas are partially removed to create new radiating edges. It is shown that superposition of radiated fields of these additional radiating edges and that of unperturbed TMm0 (m = 3, 7) mode can be used to achieve sidelobe reduction and gain enhancement in single-layer configuration. Two novel single layer, easy to fabricate higher order mode patch antennas, namely, notch loaded TM30 mode patch antenna (Antenna 1) and notch loaded TM70 mode patch antenna (Antenna 2), are presented. Antenna 1 shows a measured gain of 12.9 dBi and E-plane sidelobe levels (SLL) of -10.5 dB, whereas Antenna 2 shows a measured gain of 16 dBi and SLL of -12.8 dB. To the best of authors' knowledge, this is the highest reported antenna gain for single-layer TM70 mode rectangular patch antenna. Due to their high gain, proposed antennas are suitable for short range point to point communication applications. [ABSTRACT FROM AUTHOR]

Since 2016, a survey was carried out on the distribution of Scarabaeidae from Kotli District, Azad Kashmir, Pakistan, and unpublished data of some scarab species from Balochistan are added. The list consists of 20 species and three subspecies in 18 genera. The subfamily Scarabaeinae had the highest number of taxa with ten species and two subspecies. The Rutelinae had five species and one subspecies, Cetoniinae with three species, and one species each in Dynastinae and Melolonthinae. A taxonomic account of Scarabaeidae from the northern part of Pakistan, including some areas of Azad Kashmir, was studied by RATCLIFFE & AHMED (2010), SABATINELLI & AHRENS (2015) and SIDDIQUI et al. (2014) but never attempted from Kotli District, Azad Kashmir. For this reason, all the records reported from this area are new. Furthermore, new data and a new record are provided for some Scarabaeidae species from Balochistan. [ABSTRACT FROM AUTHOR]

A pyrazine as ancillary ligand coordinated to dysprosium(III) tris-acetylacetonate complex was synthesized and thoroughly characterized. Photophysical properties of the Dy(III) complex were investigated both in solution and solid powder. The quantum yield ( ɸ) of the complex in chloroform is 0.024. The UV excitation of the complex in the solid state generates white light emission which indicates significant energy transfer from the ligands (acetylacetone and pyrazines) to the Dy(III) ion. This could be due to the appropriate balancing of the intensity ratio of the yellow and blue emission bands of the Dy(III) complex. This represents an example of a single component system. The correlated colour temperature (CCT) of this white light is calculated as 5340.21 K which lies in a cool region. The radiative properties of the Dy(III) complex are calculated using Judd-Ofelt analysis and the phenomenological parameters calculated are Ω 2  = 8.07 × 10 −20  cm 2 , Ω 4  = 1.94 × 10 −20  cm 2 and Ω 6  = 1.67 × 10 −20  cm 2 . The branching ratio ( β R ) ratio calculated from the emission spectrum follows the order: 4 F 9/2  →  6 H 13/2  >  4 F 9/2  →  6 H 15/2  >  4 F 9/2  →  6 H 11/2 . The β R for the 4 F 9/2  →  6 H 13/2 transition is highest, and it contributes 83% to the total emission branching and can be considered as a possible transition for laser amplification. The white light emission from the solid powder Dy(III) complex as a single component may possibly find its use in white light emitting devices (WLEDs). [ABSTRACT FROM AUTHOR]

A modifier variant can abrogate the risk of a monogenic disorder. DFNM1 is a locus on chromosome 1 encoding a dominant suppressor of human DFNB26 recessive, profound deafness. Here, we report that DFNB26 is associated with a substitution (p.Gly116Glu) in the pleckstrin homology domain of GRB2-associated binding protein 1 (GAB1), an essential scaffold in the MET proto-oncogene, receptor tyrosine kinase/HGF (MET/HGF) pathway. A dominant substitution (p.Arg544Gln) of METTL13, encoding a predicted methyltransferase, is the DFNM1 suppressor of GAB1-associated deafness. In zebrafish, human METTL13 mRNA harboring the modifier allele rescued the GAB1-associated morphant phenotype. In mice, GAB1 and METTL13 colocalized in auditory sensory neurons, and METTL13 coimmunoprecipitated with GAB1 and SPRY2, indicating at least a tripartite complex. Expression of MET-signaling genes in human lymphoblastoid cells of individuals homozygous for p.Gly116Glu GAB1 revealed dysregulation of HGF, MET, SHP2, and SPRY2, all of which have reported variants associated with deafness. However, SPRY2 was not dysregulated in normal-hearing humans homozygous for both the GAB1 DFNB26 deafness variant and the dominant METTL13 deafness suppressor, indicating a plausible mechanism of suppression. Identification of METTL13-based modification of MET signaling offers a potential therapeutic strategy for a wide range of associated hearing disorders. Furthermore, MET signaling is essential for diverse functions in many tissues including the inner ear. Therefore, identification of the modifier of MET signaling is likely to have broad clinical implications. [ABSTRACT FROM AUTHOR]

The Secretariat Building is located inside the Chandigarh, Capitol Complex, India. The exterior surface of the building has deteriorated due to weathering effects. The aim of the present study was to assess efficacy of selected protective materials on exposed heritage reinforced concrete surface of the Secretariat Building for restoration. Selected concrete sealers and Evercrete DPS with essential oil of peppermint and eucalyptus were evaluated for UV degradation yellowing test on white cement panels, accelerated ageing test on concrete beams up to 5 years, field trial on the exterior surface of the Secretariat Building up to 38 weeks and test for determining the water absorption on concrete cores (ASTM D 6489-99) up to 4 years. The result reveals that Konex WRA-2318 and La Shield WR Xtra are effective for surface treatment of the Secretariat Building without changing the colour of the surface up to 4 and 2 years respectively. [ABSTRACT FROM AUTHOR]

In this paper, we studied the impact of spatial distribution of aligned carbon nanotube (CNT) on the performance variation of CNTFETs. The distribution of CNT spacing for a given density is identified and verified through Monte Carlo simulation. This distribution is then incorporated into a compact model to study its impact on the performance variation. It was identified that the spatial distribution of CNT not only generates a new source of performance variation, it also leads to around 10% lower current compared with the generally assumed uniform distribution case at typical CNT density. The approach is also used to evaluate the variations of inverter gate delay and SRAM static read noise margin which demonstrate its capability for predicting CNTFET-based circuit performance variation. [ABSTRACT FROM AUTHOR]

We consider numerical solution of a quadratic matrix equation associated with a nonsingular M-matrix (M-QME), which arises in study of noisy Wiener–Hopf problems for Markov chain. We first transform the M-QME to a nonsymmetric algebraic Riccati equation (NARE) of special form, and then solve this special NARE by fixed-point iteration. Theoretical analysis and numerical experiments show that our method is effective and efficient. [ABSTRACT FROM AUTHOR]

In this paper, we present a gate capacitance model for the aligned carbon nanotube (CNT) array-based FETs with arbitrary distribution of separations between CNTs. By using conformal mapping, the boundary conditions of a capacitor formed by a CNT and a finite planar gate electrode are transformed into a symmetrical circular geometry that simplifies the formulation of the capacitance. The derived model shows improved accuracy compared with the existing models in most of the practical situations, including closely packed CNTs with strong electric field screening, nonuniform CNT spacing, endpoint capacitance with finite gate electrode termination, and substrate material with a different dielectric constant from the gate dielectric. The model has been extensively verified by numerical simulation. To demonstrate the usefulness of the model, it has been applied to predict the gate capacitance of a CNTFET with an experimentally measured CNT spacing distribution. [ABSTRACT FROM PUBLISHER]

Acquired adult-onset zinc deficiency is occasionally reported in patients with malnutrition states, such as alcoholism, or malabsorptive states, such as post-bariatric surgery. The defining symptoms of hypozincemia include a classic triad of necrolytic dermatitis, diffuse alopecia, and diarrhea. We report a case of zinc deficiency in a 39-year-old man with history of gastric bypass surgery and alcoholism. For this patient, severe hypozincemia confirmed acrodermatitis, and zinc supplementation was met with gradual improvement. [ABSTRACT FROM AUTHOR]

A series of highly volatile eight-coordinateair and moisture stablelanthanide complexes of the type [Ln(hfaa)3(L)2] (Ln = Pr (1), Nd (2), Eu (3), Gd (4), Tb (5), Dy (6),Ho (7), Er (8), Tm (9), andYb (10); hfaa = anion of hexafluoroacetylacetone andL = pyrazole) have been synthesized and characterized by elementalanalysis, IR, ESI-MS+, and NMR studies. Single-crystalX-ray structures have been determined for the Eu(III) and Dy(III)complexes. These complexes crystallize in the monoclinic space group P21/c. The lanthanide ion ineach of these complexes is eight-coordinate with six oxygen atomsfrom three hfaa and two N-atoms from two pyrazole units, forming acoordination polyhedron best describable as a distorted square antiprism.The NMR spectra reveal that both the pyrazole units remain attachedto the metal in solution and the β-diketonate and pyrazole protonsare shifted in opposite directions in the case of paramagnetic complexes.The lanthanide-induced chemical shifts are dipolar in nature. Thehypersensitive transitions of Nd(III), Ho(III), and Er(III) are sensitiveto the environment (solvent), which is reflected by the oscillatorstrength and band shape of these transitions. The band shape due tothe hypersensitive transition of Nd(III) in noncoordinating chloroformand dichloromethane is similar to those of the typical eight-coordinateNd(III) β-diketonate complexes. The quantum yield and lifetimeof Pr(III), Eu(III), Tb(III), Dy(III), and Tm(III) in visible andPr(III), Nd(III), Dy(III), Ho(III), Er(III) Tm(III), and Yb(III) inthe NIR region are sizable. The environment around these metal ionsis asymmetric, which leads to increased radiative rates and luminescenceefficiencies. The quantum yield of the complexes reveal that ligand-to-metalenergy transfer follows the order Eu(III) > Tb(III) ≫ Pr(III)> Dy(III) > Tm(III). Both ligands (hfaa and pyrazole) are goodsensitizersfor all the visible and NIR emitters effectively, except for Tb(III),Dy(III), and Tm(III), where pyrazole gave a negative effect (e.g.,energy back-transfer) that is due to poor intramolecular energy transfermatch. The good luminescent properties make these NIR-luminescentcomplexes to have potential application in optical communication,telecommunications, and fluoroimmunoassays. [ABSTRACT FROM AUTHOR]

We describe Androctonus robustus sp. n. and A. cholistanus sp. n. from Pakistan and India and compare them with A. finitimus (Pocock, 1897), whose holotype we have studied. These three species are closely related and form a group that has hitherto been considered one species. They share coloration and are close to each other in geographic range. However, these three species can be reliably distinguished morphologically, primarily based on morphometry of male metasoma, which is widest in A. robustus sp. n. and narrowest in A. cholistanus sp. n. [ABSTRACT FROM AUTHOR]

Axon regeneration in the injured adult CNS is reportedly inhibited by myelin-derived inhibitory molecules, after binding to a receptor complex comprised of the Nogo-66 receptor (NgR1) and two transmembrane co-receptors p75/TROY and LINGO-1. However, the post-injury expression pattern for LINGO-1 is inconsistent with its proposed function. We demonstrated that AMIGO3 levels were significantly higher acutely than those of LINGO-1 in dorsal column lesions and reduced in models of dorsal root ganglion neuron (DRGN) axon regeneration. Similarly, AMIGO3 levels were raised in the retina immediately after optic nerve crush, whilst levels were suppressed in regenerating optic nerves, induced by intravitreal peripheral nerve implantation. AMIGO3 interacted functionally with NgR1-p75/TROY in non-neuronal cells and in brain lysates, mediating RhoA activation in response to CNS myelin. Knockdown of AMIGO3 in myelin-inhibited adult primary DRG and retinal cultures promoted disinhibited neurite growth when cells were stimulated with appropriate neurotrophic factors. These findings demonstrate that AMIGO3 substitutes for LINGO-1 in the NgR1-p75/TROY inhibitory signalling complex and suggests that the NgR1-p75/TROY-AMIGO3 receptor complex mediates myelin-induced inhibition of axon growth acutely in the CNS. Thus, antagonizing AMIGO3 rather than LINGO-1 immediately after CNS injury is likely to be a more effective therapeutic strategy for promoting CNS axon regeneration when combined with neurotrophic factor administration. [ABSTRACT FROM AUTHOR]

We describe Androctonus robustus sp. n. and A. cholistanus sp. n. from Pakistan and India and compare them with A. finitimus (Pocock, 1897), whose holotype we have studied. These three species are closely related and form a group that has hitherto been considered one species. They share coloration and are close to each other in geographic range. However, these three species can be reliably distinguished morphologically, primarily based on morphometry of male metasoma, which is widest in A. robustus sp. n. and narrowest in A. cholistanus sp. n. [ABSTRACT FROM AUTHOR]

Introduction. Food production is based on the use of fertilizers, in particular those containing phosphorus. Recovery of phosphorus from wastewater can prevent eutrophication of water bodies, meanwhile the removed phosphate can be used as a fertilizer. Materials and methods. Wastewater containing phosphorous, iron ore, iron reducing bacteria are the main components of the proposed technology for phosphorous recovery. Microscopic observations were done using laser scanning confocal microscopy. Obtained fertilizer was tested for plant growth. Results and discussion. An effective biological method for removal and recovery of phosphate from phosphate containing liquid wastes using precipitation of phosphate by microbiallyproduced ferrous ions was proposed. Performance of this biotechnology on the example of reject water (liquid fraction of anaerobic sludge) from municipal wastewater treatment plant was shown. This biotechnology is based on the application of iron ore treated by iron-reducing bacteria Stenotrophomonas maltophilia strain Bk. Dissolved ferrous are produced from solid iron ore using iron-reducing bacteria and precipitate phosphate present in wastewater. Phosphate-iron precipitate was assessed as a phosphorus fertilizer by addition of it to sandy soil poor with nutrients using for cultivation of three plants, namely Lycopersicum esculantum L. (tomato), Casicum annuum L. (pepper) and Ipomoea aquatica (water spinach). Addition of phosphorous precipitate to soil increased dry weight of stems and leaves of test plants by up to 5 times in comparison with control. Conclusion. The biotechnology of anaerobic removal and recovery of phosphate from reject water of municipal wastewater treatment plants using iron-reducing bacteria Stenotrophomonas maltophilia strain Bk and iron ore as a source of ferric has been developed. Produced phosphate - iron precipitate could be used as a phosphorus fertilizer. [ABSTRACT FROM AUTHOR]

A new species of cicada, Cicadatra ziaratica sp. n., is described from Pakistan. Male genitalia, timbal and opercula are described and illustrated as important diagnostic characters. Biological notes are also provided. A key to the known Cicadatra of Pakistan is provided. [ABSTRACT FROM AUTHOR]

There are 68 sex-linked syndromes that include hearing loss as one feature and five sex-linked nonsyndromic deafness loci listed in the OMIM database. The possibility of additional such sex-linked loci was explored by ascertaining three unrelated Pakistani families (PKDF536, PKDF1132 and PKDF740) segregating X-linked recessive deafness. Sequence analysis of POU3F4 (DFN3) in affected members of families PKDF536 and PKDF1132 revealed two novel nonsense mutations, p.Q136X and p.W114X, respectively. Family PKDF740 is segregating congenital blindness, mild-to-profound progressive hearing loss that is characteristic of Norrie disease (MIM#310600). Sequence analysis of NDP among affected members of this family revealed a novel single nucleotide deletion c.49delG causing a frameshift and premature truncation (p.V17fsX1) of the encoded protein. These mutations were not found in 150 normal DNA samples. Identification of pathogenic alleles causing X-linked recessive deafness will improve molecular diagnosis, genetic counseling and molecular epidemiology of hearing loss among Pakistanis. [ABSTRACT FROM AUTHOR]

The DFNB74 locus for autosomal-recessive, nonsyndromic deafness segregating in three families was previously mapped to a 5.36 Mb interval on chromosome 12q14.2-q15. Subsequently, we ascertained five additional consanguineous families in which deafness segregated with markers at this locus and refined the critical interval to 2.31 Mb. We then sequenced the protein-coding exons of 18 genes in this interval. The affected individuals of six apparently unrelated families were homozygous for the same transversion (c.265T>G) in MSRB3, which encodes a zinc-containing methionine sulfoxide reductase B3. c.265T>G results in a substitution of glycine for cysteine (p.Cys89Gly), and this substitution cosegregates with deafness in the six DFNB74 families. This cysteine residue of MSRB3 is conserved in orthologs from yeast to humans and is involved in binding structural zinc. In vitro, p.Cys89Gly abolished zinc binding and MSRB3 enzymatic activity, indicating that p.Cys89Gly is a loss-of-function allele. The affected individuals in two other families were homozygous for a transition mutation (c.55T>C), which results in a nonsense mutation (p.Arg19X) in alternatively spliced exon 3, encoding a mitochondrial localization signal. This finding suggests that DFNB74 deafness is due to a mitochondrial dysfunction. In a cohort of 1,040 individuals (aged 53–67 years) of European ancestry, we found no association between 17 tagSNPs for MSRB3 and age-related hearing loss. Mouse Msrb3 is expressed widely. In the inner ear, it is found in the sensory epithelium of the organ of Corti and vestibular end organs as well as in cells of the spiral ganglion. Taken together, MSRB3-catalyzed reduction of methionine sulfoxides to methionine is essential for hearing. [ABSTRACT FROM AUTHOR]

Background: Recessive mutations of fibroblast growth factor 3 (FGF3) can cause LAMM syndrome (OMIM 610706), characterized by fully penetrant complete labyrinthine aplasia, microtia and microdontia. Methods: We performed a prospective molecular genetic and clinical study of families segregating hearing loss linked to FGF3 mutations. Ten affected individuals from three large Pakistani families segregating FGF3 mutations were imaged with CT, MRI, or both to detect inner ear abnormalities. We also modeled the three dimensional structure of FGF3 to better understand the structural consequences of the three missense mutations. Results: Two families segregated reported mutations (p.R104X and p.R95W) and one family segregated a novel mutation (p.R132GfsX26) of FGF3. All individuals homozygous for p.R104X or p.R132GfsX26 had fully penetrant features of LAMM syndrome. However, recessive p.R95W mutations were associated with nearly normal looking auricles and variable inner ear structural phenotypes, similar to that reported for a Somali family also segregating p.R95W. This suggests that the mild phenotype is not entirely due to genetic background. Molecular modeling result suggests a less drastic effect of p.R95W on FGF3 function compared with known missense mutations detected in fully penetrant LAMM syndrome. Since we detected significant intrafamilial variability of the inner ear structural phenotype in the family segregating p.R95W, we also sequenced FGF10 as a likely candidate for a modifier. However, we did not find any sequence variation, pointing out that a larger sample size will be needed to map and identify a modifier. We also observed a mild to moderate bilateral conductive hearing loss in three carriers of p.R95W, suggesting either a semi-dominant effect of this mutant allele of FGF3, otitis media, or a consequence of genetic background in these three family members. Conclusions: We noted a less prominent dental and external ear phenotype in association with the homozygous p.R95W. Therefore, we conclude that the manifestations of recessive FGF3 mutations range from fully penetrant LAMM syndrome to deafness with residual inner ear structures and, by extension, with minimal syndromic features, an observation with implications for cochlear implantation candidacy. [ABSTRACT FROM AUTHOR]

The incidence of spinal cord injury (SCI) is ever-growing, resulting in life-changing neurological deficits which can have devastating long-term impacts on a person's quality of life. There is an unmet clinical need for a treatment which will prevent progression of the injury, allowing improved axonal regeneration and functional recovery to occur. The initial mechanical insult, followed by a cascade of secondary mechanisms, leads to the exacerbation and remodelling of the lesion site, thus inhibiting neurological recovery. Oedema rapidly accumulates following SCI and contributes to the detrimental pathophysiology and worsens functional outcomes. This study systematically reviewed the current experimental treatments being explored in the field of SCI, which specifically target oedema. Abiding by PRISMA guidelines and strict inclusion criteria, 14 studies were identified and analysed from three online databases (PubMed, Web of Science and EMBASE). As a result, we identified three key modalities which attenuate oedema: selective inhibition of the main water channel protein, aquaporin 4 (AQP4), modulation of inflammation and surgical interventions. Collectively, however, they all result in the downregulation of AQP4, which crucially leads to a reduction in oedema and improved functional outcomes. We concluded that trifluoperazine (TFP), a calmodulin kinase inhibitor which prevents the cell-surface localisation of AQP4, was the most efficacious treatment, significantly eliminating oedema within 7 days of administration. To date, this study is the most concise analysis of current experimental treatments for oedema, exposing its molecular mechanisms and assessing potential therapeutic pathways for future research. [ABSTRACT FROM AUTHOR]

Mutations of PCDH15, encoding protocadherin 15, can cause either combined hearing and vision impairment (type 1 Usher syndrome; USH1F) or nonsyndromic deafness (DFNB23). Human PCDH15 is reported to be composed of 35 exons and encodes a variety of isoforms with 3–11 ectodomains (ECs), a transmembrane domain and a carboxy-terminal cytoplasmic domain (CD). Building on these observations, we describe an updated gene structure that has four additional exons of PCDH15 and isoforms that can be subdivided into four classes. Human PCDH15 encodes three alternative, evolutionarily conserved unique cytoplasmic domains (CD1, CD2 or CD3). Families ascertained on the basis of prelingual hearing loss were screened for linkage of this phenotype to markers for PCDH15 on chromosome 10q21.1. In seven of twelve families segregating USH1, we identified homozygous mutant alleles (one missense, one splice site, three nonsense and two deletion mutations) of which six are novel. One family was segregating nonsyndromic deafness DFNB23 due to a homozygous missense mutation. To date, in our cohort of 557 Pakistani families, we have found 11 different PCDH15 mutations that account for deafness in 13 families. Molecular modeling provided mechanistic insight into the phenotypic variation in severity of the PCDH15 missense mutations. We did not find pathogenic mutations in five of the twelve USH1 families linked to markers for USH1F, which suggest either the presence of mutations of yet additional undiscovered exons of PCDH15, mutations in the introns or regulatory elements of PCDH15, or an additional locus for type I USH at chromosome 10q21.1. [ABSTRACT FROM AUTHOR]

Traumatic brain injury (TBI) represents one of the leading causes of mortality and morbidity worldwide, placing an enormous socioeconomic burden on healthcare services and communities around the world. Survivors of TBI can experience complications ranging from temporary neurological and psychosocial problems to long-term, severe disability and neurodegenerative disease. The current lack of therapeutic agents able to mitigate the effects of secondary brain injury highlights the urgent need for novel target discovery. This study comprises two independent systematic reviews, investigating both microRNA (miRNA) and proteomic expression in rat models of severe TBI (sTBI). The results were combined to perform integrated miRNA-protein co-expression analyses with the aim of uncovering the potential roles of miRNAs in sTBI and to ultimately identify new targets for therapy. Thirty-four studies were included in total. Bioinformatic analysis was performed to identify any miRNA–protein associations. Endocytosis and TNF signalling pathways were highlighted as common pathways involving both miRNAs and proteins found to be differentially expressed in rat brain tissue following sTBI, suggesting efforts to find novel therapeutic targets that should be focused here. Further high-quality investigations are required to ascertain the involvement of these pathways and their miRNAs in the pathogenesis of TBI and other CNS diseases and to therefore uncover those targets with the greatest therapeutic potential. [ABSTRACT FROM AUTHOR]

Abstract: In this study, the effect of sludge retention time (SRT) on membrane bio-fouling was investigated in a membrane bioreactor (MBR) equipped with a sequential anoxic/anaerobic reactor. Specific cake resistance (α), trans-membrane pressure (TMP), mixed liquor suspended solids (MLSS), particle sizes, extracellular polymer substances bound in sludge (bound-EPS) and their correlations with membrane bio-fouling were studied at different SRTs. As SRT decreased to 20 days, the bound-EPS per unit of biomass increased, and consequently, the value of α increased, which resulted in the rise of TMP. However, the reduction of the bound-EPS content was relatively small as compared to a significant decrease in the value of α at longer SRTs (above 60 days). These observations suggest that colloidal particles significantly contribute to membrane bio-fouling. In addition, the diversity of the microbial community structure of activated sludge in the MBRs was observed using the respiratory quinone profile. The ubiquinone species containing UQ-8, belonging to the class β-Proteobacteria type were the major constituents of the microbial community structure. The mole fraction of menaquinone MK-6, -7 and -8(H2) increased as SRT increased. Thus, the results of this study indicate that growth of microorganisms belonging to the δ- and ɛ-subclass of Proteobacteria as well as the members of the Cytophaga–Flavobacterium cluster increased at longer SRTs. [Copyright &y& Elsevier]

The inner ear has fluid-filled compartments of different ionic compositions, including the endolymphatic and perilymphatic spaces of the organ of Corti; the separation from one another by epithelial barriers is required for normal hearing. TRIC encodes tricellulin, a recently discovered tight-junction (TJ) protein that contributes to the structure and function of tricellular contacts of neighboring cells in many epithelial tissues. We show that, in humans, four different recessive mutations of TRIC cause nonsyndromic deafness (DFNB49), a surprisingly limited phenotype, given the widespread tissue distribution of tricellulin in epithelial cells. In the inner ear, tricellulin is concentrated at the tricellular TJs in cochlear and vestibular epithelia, including the structurally complex and extensive junctions between supporting and hair cells. We also demonstrate that there are multiple alternatively spliced isoforms of TRIC in various tissues and that mutations of TRIC associated with hearing loss remove all or most of a conserved region in the cytosolic domain that binds to the cytosolic scaffolding protein ZO-1. A wild-type isoform of tricellulin, which lacks this conserved region, is unaffected by the mutant alleles and is hypothesized to be sufficient for structural and functional integrity of epithelial barriers outside the inner ear. [ABSTRACT FROM AUTHOR]

Sound and acceleration are detected by hair bundles, mechanosensory structures located at the apical pole of hair cells in the inner ear. The different elements of the hair bundle, the stereocilia and a kinocilium, are interconnected by a variety of link types. One of these links, the tip link, connects the top of a shorter stereocilium with the lateral membrane of an adjacent taller stereocilium and may gate the mechanotransducer channel of the hair cell. Mass spectrometric and Western blot analyses identify the tip-link antigen, a hitherto unidentified antigen specifically associated with the tip and kinocilial links of sensory hair bundles in the inner ear and the ciliary calyx of photoreceptors in the eye, as an avian ortholog of human protocadherin-15, a product of the gene for the deaf/blindness Usher syndrome type 1F/DFNB23 locus. Multiple protocadherin-15 transcripts are shown to be expressed in the mouse inner ear, and these define four major isoform classes, two with entirely novel, previously unidentified cytoplasmic domains. Antibodies to the three cytoplasmic domain-containing isoform classes reveal that each has a different spatiotemporal expression pattern in the developing and mature inner ear. Two isoforms are distributed in a manner compatible for association with the tip-link complex. An isoform located at the tips of stereocilia is sensitive to calcium chelation and proteolysis with subtilisin and reappears at the tips of stereocilia as transduction recovers after the removal of calcium chelators. Protocadherin-15 is therefore associated with the tip-link complex and may be an integral component of this structure and/or required for its formation. [ABSTRACT FROM AUTHOR]

Abstract: Mutant alleles of the gene encoding cadherin 23 are associated with Usher syndrome type 1 (USH1D), isolated deafness (DFNB12) in humans, and deafness and circling behavior in waltzer (v) mice. Stereocilia of waltzer mice are disorganized and the kinocilia misplaced, indicating the importance of cadherin 23 for hair bundle development. Cadherin 23 was localized to developing stereocilia and proposed as a component of the tip link. We show that, during development of the inner ear, cadherin 23 is initially detected in centrosomes at E14.5, then along the length of emerging stereocilia, and later becomes concentrated at and subsequently disappears from the tops of stereocilia. In mature vestibular hair bundles, cadherin 23 is present along the kinocilium and in the region of stereocilia¿kinocilium bonds, a pattern conserved in mammals, chicks, and frogs. Cadherin 23 is also present in Reissner''s membrane (RM) throughout development. In homozygous v6J mice, a reported null allele, cadherin 23 was absent from stereocilia, but present in kinocilia, RM, and centrosomes. We reconciled these results by identifying two novel isoforms of Cdh23 unaffected in sequence and expression by the v6J allele. Our results suggest that Cdh23 participation in stereocilia links may be restricted to developing hair bundles. [Copyright &y& Elsevier]

We have previously described the production of large cables of fibronectin, a large extracellular matrix cell adhesion glycoprotein, which has a potential application in tissue engineering. Here we have stabilised these cables for longer survival and looked at their ultrastructural cell–substrate behaviour in vitro. Dissolution experiments showed that low concentrations of copper not only caused significant material stabilisation but left pores which could promote cell ingrowth, as we have previously reported with Fn-mats. Indeed, the greatest amount of cell ingrowth was observed for copper treated cables. Immunostaining showed S-100+ multi-layers of cells around the edge of cables while ultrastructural analysis confirmed the presence of a mixture of fibroblasts and bipolar cells associated with fragments of basal lamina, which is a Schwann cell phenotype. Interestingly, the outermost layers of cells consisted of S-100− cells, presumed fibroblasts, apparently ‘capping’ the Schwann cells. Toxicity tests revealed that Schwann cells were only able to grow at the lowest concentration of copper used (1 μm) while fibroblasts grew at all concentrations tested. These results could be used to design biomaterials with optimum properties for promoting cellular ingrowth and survival in tissue engineered grafts which may be used to improve peripheral nerve repair. [Copyright &y& Elsevier]

Background: Mutant alleles of TMPRSS3 are associated with nonsyndromic recessive deafness (DFNB8/B10). TMPRSS3 encodes a predicted secreted serine protease, although the deduced amino acid sequence has no signal peptide. In this study, we searched for mutant alleles of TMPRSS3 in families from Pakistan and Newfoundland with recessive deafness co-segregating with DFNB8/B10 linked haplotypes and also more thoroughly characterized the genomic structure of TMPRSS3. Methods: We enrolled families segregating recessive hearing loss from Pakistan and Newfoundland. Microsatellite markers flanking the TMPRSS3 locus were used for linkage analysis. DNA samples from participating individuals were sequenced for TMPRSS3. The structure of TMPRSS3 was characterized bioinformatically and experimentally by sequencing novel cDNA clones of TMPRSS3. Results: We identified mutations in TMPRSS3 in four Pakistani families with recessive, nonsyndromic congenital deafness. We also identified two recessive mutations, one of which is novel, of TMPRSS3 segregating in a six-generation extended family from Newfoundland. The spectrum of TMPRSS3 mutations is reviewed in the context of a genotype-phenotype correlation. Our study also revealed a longer isoform of TMPRSS3 with a hitherto unidentified exon encoding a signal peptide, which is expressed in several tissues. Conclusion: Mutations of TMPRSS3 contribute to hearing loss in many communities worldwide and account for 1.8% (8 of 449) of Pakistani families segregating congenital deafness as an autosomal recessive trait. The newly identified TMPRSS3 isoform e will be helpful in the functional characterization of the full length protein. [ABSTRACT FROM AUTHOR]

Cosegregation of profound, congenital deafness with markers on chromosome 6q13 in three Pakistani families defines a new recessive deafness locus, DFNB37. Haplotype analyses reveal a 6-cM linkage region, flanked by markers D6S1282 and D6S1031, that includes the gene encoding unconventional myosin VI. In families with recessively inherited deafness, DFNB37, our sequence analyses of MYO6 reveal a frameshift mutation (36-37insT), a nonsense mutation (R1166X), and a missense mutation (E216V). These mutations, along with a previously published missense allele linked to autosomal dominant progressive hearing loss (DFNA22), provide an allelic spectrum that probes the relationship between myosin VI dysfunction and the resulting phenotype. [ABSTRACT FROM AUTHOR]

Reports several mutations of protocadherin 15 found in several families segregating Usher syndrome type 1F. Gene expression in the retina; Pathogenic role in the retinitis pigmentosa associated with Usher syndrome; Family and clinical data.

Intellectual disability (ID), which affects around 2% to 3% of the population, accounts for 0.63% of the overall prevalence of neurodevelopmental disorders (NDD). ID is characterized by limitations in a person's intellectual and adaptive functioning, and is caused by pathogenic variants in more than 1000 genes. Here, we report a rare missense variant (c.350T>C; p.(Leu117Ser)) in HACE1 segregating with NDD syndrome with clinical features including ID, epilepsy, spasticity, global developmental delay, and psychomotor impairment in two siblings of a consanguineous Pakistani kindred. HACE1 encodes a HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1 (HACE1), which is involved in protein ubiquitination, localization, and cell division. HACE1 is also predicted to interact with several proteins that have been previously implicated in the ID phenotype in humans. The p.(Leu117Ser) variant replaces an evolutionarily conserved residue of HACE1 and is predicted to be deleterious by various in silico algorithms. Previously, eleven protein truncating variants of HACE1 have been reported in individuals with NDD. However, to our knowledge, p.(Leu117Ser) is the second missense variant in HACE1 found in an individual with NDD. [ABSTRACT FROM AUTHOR]

Analyzes the relationship between long-term pavement performance in wet climates and the amount, extent and duration of internal moisture in an experiment conducted at Indiana. Effect of moisture at different layers in the pavement structure; Types of subdrainage collector systems for removing subsurface moisture; Result of the research.

00135.2013.--Usher syndrome (USH) is a neurosensory disorder affecting both hearing and vision in humans. Linkage studies of families of USH patients, studies in animals, and characterization of purified proteins have provided insight into the molecular mechanisms of hearing. To date, 11 USH proteins have been identified, and evidence suggests that all of them are crucial for the function of the mechanosensory cells of the inner ear, the hair cells. Most USH proteins are localized to the stereocilia of the hair cells, where mechano-electrical transduction (MET) of sound-induced vibrations occurs. Therefore, elucidation of the functions of USH proteins in the stereocilia is a prerequisite to understanding the exact mechanisms of MET. [ABSTRACT FROM AUTHOR]

• A novel (octylamine modified vermiculite) material for enhanced simultaneous removal of Cd(II) and Pb(II). • Modification involved ion exchange and surface complexation properties between surfactant and vermiculite. • Modified material was low lost with no secondary pollution. • After modification, adsorbent showed >220 % metal uptake with easy separation and recyclability. Cadmium (Cd) and lead (Pb) have been remained the topic of investigation for various research studies because of their adverse effects on human health, furthermore, they have toxic and non‒biodegradable properties. In this study, vermiculite (VER) was functionalized with octylamine (OCT) to obtain a novel organoclay (OCT-VER) for enhanced simultaneous adsorption of Cd(II) and Pb(II) from aqueous solution. Adsorbents were characterized and parameters influencing on adsorption were also investigated. The adsorption of Cd(II) and Pb(II) by OCT-VER was monolayer and homogenous which was described well by Langmuir isotherm model. After modification, the affinities of OCT-VER towards both metal ions were enhanced. In single system, maximum adsorption capacities for Cd(II) and Pb(II) were improved from 45.245 and 102.289 mg.g−1 to 69.595 and 184.603 mg.g−1, while in binary system from 37.539 and 78.265 mg.g−1 to 61.630 and 121.986 mg.g−1, respectively. In adsorbent regeneration experiment of OCT-VER, the removal ratio was found ≈90 % even after 5 consecutive cycles, exhibiting good stability and easy regeneration potential. After studying thoroughly, ion-exchange and complexation properties were the main reaction mechanism. These findings suggested that the proposed low cost adsorbent was suitable and promising material for Cd(II) and Pb(II) adsorption in water. [ABSTRACT FROM AUTHOR]