30 research outputs found

    Metamaterial-Based Sensor Design Using Split Ring Resonator and Hilbert Fractal for Biomedical Application

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    In this research, a simple and efficient approach is presented to design a metamaterial-based sensitive sensor for biomedical applications. The metamaterial based sensor is designed to differentiate between different types of cancer cell lines based on their electrical properties. The sensor is designed by incorporating a single circular split ring resonator (SRR) and a Hilbert fractal curve. The SRR is used considering its capacitive and inductive resonance properties, thereby making the SRR a favorable candidate for sensing applications. Moreover, the Hilbert fractal curve was used as a defected ground structure to increase sensor sensitivity and selectivity. The Hilbert fractal ground will increase the capacitance and inductance of the sensor, thus increasing the sensor sensitivity. Different Hilbert curve orders were investigated. The fourth-order Hilbert curve was used in the final design because it showed the optimal performance among the orders. To verify the sensor functionality and selectivity, the proposed sensor was tested through three breast cancer cell lines. Measurement results were compared to simulated results obtained using high-frequency structure simulator (HFSS). In addition, support vector machine, which is an artificial neural network (ANN), was developed to classify the type of each cancerous cell based on resonance frequency

    A missense mutation in TRAPPC6A leads to build-up of the protein, in patients with a neurodevelopmental syndrome and dysmorphic features.

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    Childhood onset clinical syndromes involving intellectual disability and dysmorphic features, such as polydactyly, suggest common developmental pathways link seemingly unrelated phenotypes. We identified a consanguineous family of Saudi origin with varying complex features including intellectual disability, speech delay, facial dysmorphism and polydactyly. Combining, microarray based comparative genomic hybridisation (CGH) to identify regions of homozygosity, with exome sequencing, led to the identification of homozygous mutations in five candidate genes (RSPH6A, ANKK1, AMOTL1, ALKBH8, TRAPPC6A), all of which appear to be pathogenic as predicted by Proven, SIFT and PolyPhen2 and segregate perfectly with the disease phenotype. We therefore looked for differences in expression levels of each protein in HEK293 cells, expressing either the wild-type or mutant full-length cDNA construct. Unexpectedly, wild-type TRAPPC6A appeared to be unstable, but addition of the proteasome inhibitor MG132 stabilised its expression. Mutations have previously been reported in several members of the TRAPP complex of proteins, including TRAPPC2, TRAPPC9 and TRAPPC11, resulting in disorders involving skeletal abnormalities, intellectual disability, speech impairment and developmental delay. TRAPPC6A joins a growing list of proteins belonging to the TRAPP complex, implicated in clinical syndromes with neurodevelopmental abnormalities

    Characterization of Leucaena (<em>Leucaena leucephala</em>) oil by direct analysis in real time (DART) ion source and gas chromatography

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    For the first time, we report the characterization of triacylglycerols and fatty acids in Leucaena (Leucaena leucephala) oil [LUCO], an unexplored nontraditional non-medicinal plant belonging to the family Fabaceae. LUCO was converted to fatty acid methyl esters (FAMEs). We analyzed the triacylglycerols (TAGs) of pure LUCO and their FAMEs by time-of-flight mass spectrometry (TOF-MS) followed by multivariate analysis for discrimination among the FAMEs. Our investigations for the analysis of LUCO samples represent noble features of glycerides. A new type of ion source, coupled with high-resolution TOF-MS was applied for the comprehensive analysis of triacylglycerols. The composition of fatty acid based LUCO oil was studied using Gas Chromatography (GC-FID). The major fatty acid components of LUCO oil are linoleic acid (52.08%) oleic acid (21.26%), palmitic acid (7.91%) and stearic acid (6.01%). A metal analysis in LUCO was done by Inductively Coupled Plasma Mass Spectrometry (ICP-MS). The structural elucidation and thermal stability of LUCO were studied by FT-IR, 1H NMR, 13C NMR spectroscopic techniques and TGA-DSC, respectively. We also measured the cytotoxicity of LUCO

    Caracterización del aceite de Leucaena (Leucaena leucocephala) por análisis directo en tiempo real (DART) y cromatografía de gases

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    For the first time, we report the characterization of triacylglycerols and fatty acids in Leucaena (Leucaena leucephala) oil [LUCO], an unexplored nontraditional non-medicinal plant belonging to the family Fabaceae. LUCO was converted to fatty acid methyl esters (FAMEs). We analyzed the triacylglycerols (TAGs) of pure LUCO and their FAMEs by time-of-flight mass spectrometry (TOF-MS) followed by multivariate analysis for discrimination among the FAMEs. Our investigations for the analysis of LUCO samples represent noble features of glycerides. A new type of ion source, coupled with high-resolution TOF-MS was applied for the comprehensive analysis of triacylglycerols. The composition of fatty acid based LUCO oil was studied using Gas Chromatography (GC-FID). The major fatty acid components of LUCO oil are linoleic acid (52.08%) oleic acid (21.26%), palmitic acid (7.91%) and stearic acid (6.01%). A metal analysis in LUCO was done by Inductively Coupled Plasma Mass Spectrometry (ICP-MS). The structural elucidation and thermal stability of LUCO were studied by FT-IR, 1H NMR, 13C NMR spectroscopic techniques and TGA-DSC, respectively. We also measured the cytotoxicity of LUCO.Se presenta por primera vez la caracterización de triacilgliceroles y ácidos grasos del aceite de Leucaena (Leucaena leucephala) [LUCO], una planta no medicinal, no tradicional y no explorada, perteneciente a la familia Fabaceae. Se analizaron triacilgliceroles (TAGs) de LUCO y sus FAMEs por espectrometría de masas de tiempo de vuelo (TOF-MS) seguido de análisis multivariante para discriminación entre los FAME. Nuestras investigaciones para el análisis de muestras de LUCO presentaron características propias de los glicéridos. Un nuevo tipo de fuente de iones, junto con alta resolución TOF-MS se aplicó para el análisis exhaustivo de triacilgliceroles. La composición de aceite de LUCO basado en ácidos grasos se estudió usando Cromatografía de Gas (GC-FID). Los principales componentes de ácidos grasos del aceite LUCO fueron, linoleico (52,08%), oleico (21,26%), palmítico (7,91%) y esteárico 6,01%. El análisis de metales se realizó mediante Espectrometría de Plasma Acoplado Inductivamente a Masas (ICP-MS). La elucidación estructural y la estabilidad térmica de LUCO se estudiaron mediante FT-IR, 1H NMR, técnicas espectroscópicas de 13C NMR y TGA-DSC, respectivamente. También se midió la citotoxicidad de LUCO

    Effects of pre-operative isolation on postoperative pulmonary complications after elective surgery: an international prospective cohort study

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    We aimed to determine the impact of pre-operative isolation on postoperative pulmonary complications after elective surgery during the global SARS-CoV-2 pandemic. We performed an international prospective cohort study including patients undergoing elective surgery in October 2020. Isolation was defined as the period before surgery during which patients did not leave their house or receive visitors from outside their household. The primary outcome was postoperative pulmonary complications, adjusted in multivariable models for measured confounders. Pre-defined sub-group analyses were performed for the primary outcome. A total of 96,454 patients from 114 countries were included and overall, 26,948 (27.9%) patients isolated before surgery. Postoperative pulmonary complications were recorded in 1947 (2.0%) patients of which 227 (11.7%) were associated with SARS-CoV-2 infection. Patients who isolated pre-operatively were older, had more respiratory comorbidities and were more commonly from areas of high SARS-CoV-2 incidence and high-income countries. Although the overall rates of postoperative pulmonary complications were similar in those that isolated and those that did not (2.1% vs 2.0%, respectively), isolation was associated with higher rates of postoperative pulmonary complications after adjustment (adjusted OR 1.20, 95%CI 1.05-1.36, p = 0.005). Sensitivity analyses revealed no further differences when patients were categorised by: pre-operative testing; use of COVID-19-free pathways; or community SARS-CoV-2 prevalence. The rate of postoperative pulmonary complications increased with periods of isolation longer than 3 days, with an OR (95%CI) at 4-7 days or ≥ 8 days of 1.25 (1.04-1.48), p = 0.015 and 1.31 (1.11-1.55), p = 0.001, respectively. Isolation before elective surgery might be associated with a small but clinically important increased risk of postoperative pulmonary complications. Longer periods of isolation showed no reduction in the risk of postoperative pulmonary complications. These findings have significant implications for global provision of elective surgical care

    Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

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    Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

    Reducing the environmental impact of surgery on a global scale: systematic review and co-prioritization with healthcare workers in 132 countries

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    Abstract Background Healthcare cannot achieve net-zero carbon without addressing operating theatres. The aim of this study was to prioritize feasible interventions to reduce the environmental impact of operating theatres. Methods This study adopted a four-phase Delphi consensus co-prioritization methodology. In phase 1, a systematic review of published interventions and global consultation of perioperative healthcare professionals were used to longlist interventions. In phase 2, iterative thematic analysis consolidated comparable interventions into a shortlist. In phase 3, the shortlist was co-prioritized based on patient and clinician views on acceptability, feasibility, and safety. In phase 4, ranked lists of interventions were presented by their relevance to high-income countries and low–middle-income countries. Results In phase 1, 43 interventions were identified, which had low uptake in practice according to 3042 professionals globally. In phase 2, a shortlist of 15 intervention domains was generated. In phase 3, interventions were deemed acceptable for more than 90 per cent of patients except for reducing general anaesthesia (84 per cent) and re-sterilization of ‘single-use’ consumables (86 per cent). In phase 4, the top three shortlisted interventions for high-income countries were: introducing recycling; reducing use of anaesthetic gases; and appropriate clinical waste processing. In phase 4, the top three shortlisted interventions for low–middle-income countries were: introducing reusable surgical devices; reducing use of consumables; and reducing the use of general anaesthesia. Conclusion This is a step toward environmentally sustainable operating environments with actionable interventions applicable to both high– and low–middle–income countries

    AB0566 CONSENSUS-BASED RECOMMENDATIONS FOR THE MANAGEMENT OF PSORIATIC ARTHRITIS IN THE KINGDOM OF SAUDI ARABIA

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    Background:Psoriatic arthritis (PsA) is a chronic inflammatory condition associated with psoriasis. The common clinical features of PsA include peripheral arthritis, dactylitis, enthesitis, spondylitis, skin and nail disease1. Considering the heterogeneous course of disease and the different patient characteristics, there is a need to standardize management of PsA patients. At present, no established guidelines are available on PsA care pathway in Saudi Arabia.Objectives:To provide consensus-based guidance to all Saudi health care providers (HCPs) on the management of PsA patients including referral pathway, definition of remission and treat-to-target approach.Methods:A Delphi technique was used to understand PsA patient care pathway. In first step, a targeted literature review was conducted and a survey questionnaire including 16 questions was developed to explore PsA patient journey. In second step, this questionnaire was submitted to 127 HCPs and 33 of them provided their response. In third step, a panel of 12 experts including 10 rheumatologists, 1 dermatologist and 1 general physician reviewed the available evidence along with survey results to align on final recommendations.Results:The most common management guidelines recommended for PsA were European League against Rheumatism (EULAR, 100% agreed) and American College of Rheumatology (ACR, 100% agreed). Psoriasis Epidemiology Screening Tool (PEST) was recommended by 67% of experts as validated screening tool for PsA in dermatology clinic. The laboratory investigations included were C-reactive protein (CRP, 100%), erythrocyte sedimentation rate (ESR, 100%), complete blood count (92%), urea and creatinine (92%), liver function (92%), rheumatoid factor (56%) and X-ray of affected joints (75%). For patients with additional symptoms of back pain, X-ray of sacroiliac joints and human leukocyte antigen B27 (HLA-B27) test to be included. Only rheumatologists should recommend a magnetic resonance imaging based on the individual clinical picture. The agreement criteria for HCPs for referring patient to a rheumatologist were presence of psoriasis (100%) and one of the following features: dactylitis [100%], joint pain [100%], arthritis [100%], nail dystrophy [91%]. Patient with active arthritis should be referred to rheumatologist within 4 weeks. The referral pathway agreed by the experts for PsA patients is presented in Figure 1. Majority of experts (57%) defined clinical remission as absence of disease activity in all facets of disease assessed using the disease activity in psoriatic arthritis (DAPSA) or minimal disease activity (MDA) index. For treat-to-target, 71% of experts agreed on EULAR recommendations2. For remission and treat-to-target, experts identified a need for more clear definition.Conclusion:This expert consensus aimed to provide guidance to Saudi HCPs on standardizing diagnosis and care of PsA patients. Most experts recommended PEST as validated screening tool for PsA along with laboratory investigations such as CRP, ESR, X-ray, etc. Referral to a rheumatologist should be considered for patient with presence of psoriasis and one of the other defining features for PsA. There is a need for more clear definition of remission and treat-to-target.References:[1]Ogdie A, et al. Rheum Dis Clin North Am. 2015;41(4):545–568.[2]Gossec L, et al. Ann Rheum Dis. 2020;79:700–712.Figure 1.Referral pathway for psoriatic arthritis patients CRP: C-reactive protein; ESR: Erythrocyte sedimentation rate; CBC: Complete blood count; HLA-B27: Human leukocyte antigen B27; PEST: Psoriasis Epidemiology Screening ToolAcknowledgements:This project was supported by Novartis Saudi Ltd., Saudi Arabia and the Saudi Society for Rheumatology. We would also like to thank Dr. Xenofon Baraliakos for his support.Disclosure of Interests:Hanan Alrayes: None declared., Mansour Alazmi Speakers bureau: Pfizer, Abbvie, Khaled Alderaan: None declared., Mushabab Alghamdi: None declared., Nayef Alghanim: None declared., Ahmed Alhazmi: None declared., Nadeer Alkhadhrawi: None declared., Mohammad Almohideb Speakers bureau: Novartis, Abbvie, Celgene, Lilly, Jansen and Sanofi, Grant/research support from: Sanofi and Abbvie, Suzan Attar Speakers bureau: Lectures in symposium about different diseases in rheumatology and management, Grant/research support from: Research in recruiting patient, Zyad ahmed Alzahrani Speakers bureau: Pfizer, Novartis, MSD, Janssen, Abbvie, Lilly, Consultant of: Pfizer, Novartis, MSD, Janssen, Abbvie, Lilly, Mohamed Bedaiwi: None declared., Nancy Zakaria Employee of: Novartis, Hussein Halabi: None declared.</jats:sec

    Identification of a de novo LRP1 mutation in a Saudi family with Tetralogy of Fallot.

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    Tetralogy of Fallot (TOF) is a rare, complex congenital heart defect caused by genetic and environmental interactions that results in abnormal heart development during the early stages of pregnancy. Genetic basis of TOF in Saudi populations is not yet studied. Therefore, the objective of this study is to screen for the molecular defects causing TOF in Saudi patients. A family with non-syndromic TOF was recruited from the Western region of Saudi Arabia. Whole exome sequencing (WES) was performed on the proband and her parents. The identified candidate variant was verified by sanger sequencing. Also, different computational biology tools were used to figure out how candidate variants affect the structure and function of candidate protein involved in TOF. A novel heterozygous de novo mutation in LRP1 (p. G3311D) gene was identified in the index case. Also, this variant was absent in the in-house exome sequencing data of 80 healthy Saudi individuals. This variant was predicted to be likely pathogenic, as it negatively affects the biophysical chemical properties and stability of the protein. Furthermore, functional biology data from knock out mouse models confirms that molecular defects in LRP1 gene leads to cardiac defects and lethality. This variant was not previously reported in both Arab and global population genetic databases. The findings in this study postulate that the LRP1 variant has a role in TOF pathogenesis and facilitate accurate diagnosis as well as the understanding of underlying molecular mechanisms and pathophysiology of the disease

    Genetics of Primary Adrenal Insufficiency Beyond CAH in Saudi Arabian Population

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    ABSTRACT Background The use of exome sequencing (ES) has helped in detecting many variants and genes that cause primary adrenal insufficiency (PAI). The diagnosis of PAI is difficult and can be life‐threatening if not treated urgently. Consanguinity can impact the detection of recessively inherited genes. Here, we report families with PAI in a consanguineous population of Saudi Arabia. Materials and Methods A cohort of 47 PAI patients (41 males and six females) representing 30 families was recruited. The cohort excluded congenital adrenal hyperplasia (CAH) cases and had a known consanguinity of 70%. Using ES, molecular genetic causes of PAI were investigated. Results In 30 unrelated families with PAI, pathogenic/likely pathogenic variants were detected in 27 families with a diagnostic yield of (90%). Clinically associated variants of uncertain significance (VUS) were identified in a further two PAI families (7%). Hemizygous variants in ABCD1 were the most common cause of PAI in this cohort (16 families) leading to adrenoleukodystrophy. A total of six novel variants were detected, of which four were predicted to be pathogenic (P) / likely pathogenic (LP) and two were VUS. Four pathogenic variants in ABCD1, NR0B1, and MC2R were detected in 10 families suggesting founder mutations. Conclusion In this cohort, ES detected a diagnostic molecular abnormality in 90% of patients with PAI phenotypes. X‐linked inheritance is the most common cause of PAI and founder mutations likely contributed to a high diagnostic yield
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