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Exome sequencing identifies a likely causative variant in 53%of families with ciliopathy-related features on renal ultrasound after excluding NPHP1 deletions

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Genes & Diseases 2024年第5期11卷 40-43页

作者： Konstantin Deutsch Verena Klambt Thomas M.Kitzler Tilman Jobst-Schwan Ronen Schneider Florian Buerger Steve Seltzsam Sherif El Desoky Jameela A.Kari Farkhanda Hafeez Maria Szczepanska Loai A.Eid Hazem S.Awad Muna Al-Saffar Neveen A.Soliman Velibor Tasic Camille Nicolas-Frank Kirollos Yousef Luca M.Schierbaum Sophia Schneider Abdul Halawi Izzeldin Elmubarak Katharina Lemberg Shirlee Shril Shrikant M.Mane Nancy Rodig Friedhelm Hildebrandt Division of Nephrology Department of PediatricsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatric Gastroenterology Nephrology and Metabolic DiseasesCharite Universitatsmedizin BerlinBerlin 13353Germany Berlin Institute of Health at Charitee Universitatsmedizin Berlin BIH Biomedical Innovation AcademyBIH Charite Clinician Scientist ProgramBerlin 10178Germany Department of Nephrology and Hypertension FriedrichAlexander-Universitat Erlangen-NurnbergErlangen 91054Germany Department of Pediatrics Faculty of Medicine King Abdulaziz UniversityPediatric Nephrology Center of ExcellenceKing Abdulaziz University HospitalJeddah 21589Saudi Arabia Department of Pediatric Nephrology The Children’s Hospital and Institute of Child HealthLahore 54000Pakistan Department of Pediatrics Faculty of Medical Sciences in ZabrzeMedical University of Silesia in KatowiceKatowice 40-752Poland Dubai Hospital and Al-Jalila Children’s Specialty Hospital Kidney Center of ExcellenceDubai 4545United Arab Emirates Department of Genetics and Genomics UAE UniversityAbu Dhabi 15551United Arab Emirates Department of Pediatrics Division of Genetics and GenomicsBoston Children’s HospitalHarvard Medical SchoolBostonMA 02215USA Department of Pediatrics Center of Pediatric Nephrology and TransplantationKasr Al Ainy School of MedicineCairo UniversityCairo 11562Egypt Egypt center for Research and Regenerative Medicine(ECRRM) Cairo 11511Egypt medical Faculty Skopje University Children’s HospitalSkopje 1000North Macedonia Department of Genetics Yale University School of MedicineNew HavenCT 06520USA

Nephronophthisis-related ciliopathies(NPHP-RC)represent one of the most common causes of chronic kidney disease in the first three decades of life and are characterized by a broad genetic and clinical heterogeneity.1 To date,more than 90 genes have been identified that cause autosomalrecessive NPHP-RC if mutated,accounting for up to 60%of cases.1 Among these,homozygous deletions of NPHP1 are the most common *** genes localize to primary cilia,basal bodies,or the centrosome and lead to a primary ciliary disruption if mutated,thereby causing a broad phenotypical spectrum.1 Patients that suffer from NPHP-RC can either have an isolated renal phenotype,such as polyuria,polydipsia,decreased urinary concentration ability,and secondary enuresis due to loss of tubular function,or present with extrarenal symptoms including retinal degeneration,cerebellar vermis hypoplasia,or hepatic *** are often diagnosed in early adolescence,reaching end-stage renal disease before 25 years of age,but early onset and rapidly progressive forms of NPHP-RC also exist.1 Renal ultrasound indicates kidneys of normal or reduced renal length with increased echogenicity and corticomedullary cysts.

关键词： degeneration urinary likely

Impact of multifocal gas-permeable lens designs on short-term choroidal response, axial length, and retinal defocus profile

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International Journal of Ophthalmology(English edition) 2024年第2期17卷 247-256页

作者： Muteb Alanazi Patrick Caroline Amane Alshamrani Maria Liu Optometry Department College of Applied Medical SciencesKing Saud UniversityRiyadh 14813Saudi Arabia College of Optometry Pacific UniversityForest GroveOregon 97116-1756United States Optometry School University of California at BerkeleyCalifornia 94720United States

AIM:To investigate the impact of multifocal gas permeable contact lens(MFGPCL)in various add power and distance/near area allocation on short-term changes of choroidal thickness(ChT),axial length(AL),and retinal defocus profile in young ***:Seventeen young adults(2 males and 15 females;age 23.17±4.48y)were randomly assigned to wear two designs binocularly with a one-week washout period in *** of four MFGPCL designs were *** designs were distance-center that varied in two add power(+1.50 and 3.00 D)and/or two distance zone(DZ)diameters(1.50 and 3.00 mm;design A:DZ 1.5/add 3.0,B:DZ 1.5/add 1.5,C:DZ 3.0/add 3.0,D:DZ 3.0/add 1.5).ChT,AL,and peripheral refraction data were collected on each subject at baseline,on days 1 and 7 of MFGPCL daily *** was assessed in four quadrants using a spectraldomain optical coherence ***:AL was shortened by-26±44μm with lens C,-18±27μm with lens D,-13±29μm with lens A,and-8±30μm with lens B(all P<0.05).A significant overall increase in ChT was observed with all 4 designs(lens A:+6±6μm,B:+3±7μm,C:+8±7μm,and D:+8±7μm).Temporal and superior choroid exhibited more choroidal thickening associated with *** designs induced significant relative peripheral myopia(RPM)beyond the central 20o across the horizontal meridian in both nasal and temporal fields(P<0.05).CONCLUSION:MFGPCLs show a significant influence on ChT and AL,which are associated with significant increase in RPM after short-term *** reliability and feasibility of quantifying short-term changes in ChT support its use as a promising marker for the long-term efficacy of myopia-controlling treatments.

关键词： choroid gas-permeable contact lens retinal defocus axial length myopia

Influence of erbium on structural,and charged particles,photons,and neutrons shielding properties of Ba_(1-x)Er_(x)SnO_(3) perovskite ceramics

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Journal of Rare Earths 2024年第4期42卷 724-732页

作者： M.K.h.Hamad Nidal Dwaikat M.H.A.Mhareb M.I.Sayyed R.M.Hamad Y.S.M.Alajerami M.A.Almessiere Gameel Saleh Ahmad Hussein Alomari K.A.Ziq Department of Basic Sciences School of Social and Basics SciencesAl Hussein Technical UniversityKing Abdullah II St 242Amman11831Jordan Department of Physics College of Engineering and PhysicsInterdisciplinary Research Center for Advanced MaterialsKing Fahd University of Petroleum&MineralsDhahran31261Saudi Arabia Department of Physics College of ScienceImam Abdulrahman Bin Faisal UniversityP.O.Box 1982Dammam31441Saudi Arabia Basic and Applied Scientific Research center Imam Abdulrahman Bin Faisal UniversityP0.Box 1982Dammam31441Saudi Arabia Department of Physics Faculty of ScienceIsra UniversityAmman11622Jordan Department of Nuclear Medicine Research Institute for Research and Medical Consultations(IRMC)Imam Abdulrahman Bin Faisal UniversityPo.Box 1982Dammam31441Saudi Arabia medical Imaging Department Applied Medical Sciences FacultyAl Azhar University-Gaza CityPo.Box 1277Palestine Department of Biophysics Institute for Research and Medical Consultations(IRMC)Imam Abdulrahman Bin Faisal UniversityPo.Box1982Dammam 31441Saudi Arabia Department of Biomedical Engineering College of EngineeringImam Abdulrahman Bin Faisal UniversityPo.Box 1982Dammam31441Saudi Energy&Minerals Regulatory Commission Amman11821Jordan

Five perovskite ceramics samples of Ba_(1-x)Er_(x)SnO_(3) with x=0.00,0.05,0.10,0.15,and 0.20 were synthesized using the conventional solid-state reaction *** prepared samples were characterized by X-ray diffraction(XRD),Fourier transforms infrared(FTIR),and UV-Vis *** shielding properties against ionizing radiation were also *** XRD analysis shows the perovskite cubic structure as the major phase in all *** FTIR reveals a distinctive band around 614-620 cm^(-1) ascribed to the antisymmetric O-Sn-O ***-Vis spectroscopy was used to determine the bandgap according to diffuse reflectance,and the results display a fixed enhancement in the bandgap from 3.2 to 3.3 eV for all ***-ray shielding properties of the synthesized samples were experimentally measured and compared with XCOM computational *** relative differences(Δ,%)between experimental and theo retical values are low and fall within the 0.446%-7.10%*** addition of Er leads to the enhanced density,neutron,and gamma shielding *** contrast,charged particles’shielding parameters gradually reduce with rising Er *** results suggest that Ba_(1-x)Er_(x)SnO_(3) samples can be used in different radiation shielding applications.

关键词： Perovskite Ceramics Gamma ray shielding Mass stopping power Rare earths

Secure Transmission of Compressed medical Image Sequences on Communication Networks Using Motion Vector Watermarking

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Computers, Materials & Continua 2024年第3期78卷 3283-3301页

作者： Rafi Ullah Mohd Hilmi bin Hasan Sultan Daud Khan Mussadiq Abdul Rahim Computer and Information Sciences Department Universiti Teknologi PETRONASBandar Seri Iskandar Perak32610Malaysia Department of Computer Science National University of TechnologyIslamabad46000Pakistan Interdisciplinary Research center for Intelligent Secure Systems King Fahd University of Petroleum and MineralsDammam31261Saudi Arabia

medical imaging plays a key role within modern hospital management systems for diagnostic *** methodologies are extensively employed to mitigate storage demands and enhance transmission speed,all while upholding image ***,an increasing number of hospitals are embracing cloud computing for patient data storage,necessitating meticulous scrutiny of server security and privacy ***,considering the widespread availability of multimedia tools,the preservation of digital data integrity surpasses the significance of compression *** response to this concern,we propose a secure storage and transmission solution for compressed medical image sequences,such as ultrasound images,utilizing a motion vector watermarking *** watermark is generated employing an error-correcting code known as Bose-Chaudhuri-Hocquenghem(BCH)and is subsequently embedded into the compressed sequence via block-based motion *** the process of watermark embedding,motion vectors are selected based on their magnitude and phase *** embedding watermarks,no specific spatial area,such as a region of interest(ROI),is used in the *** embedding of watermark bits is dependent on motion *** reversible watermarking allows the restoration of the original image sequences,we use the irreversible watermarking *** reason for this is that the use of reversible watermarks may impede the claims of ownership and legal *** restoration of original data or images may call into question ownership or other legal *** peak signal-to-noise ratio(PSNR)and structural similarity index(SSIM)serve as metrics for evaluating the watermarked image *** all images,the PSNR value exceeds 46 dB,and the SSIM value exceeds *** results substantiate the efficacy of the proposed technique in preserving data integrity.

关键词： Block matching algorithm(BMA) compression full-search algorithm motion vectors ultrasound image sequence watermarking

Pulse oximetry in pediatric care:Balancing advantages and limitations

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World Journal of Clinical Pediatrics 2024年第3期13卷 69-97页

作者： Mohammed Al-Beltagi Nermin Kamal Saeed Adel Salah Bediwy Reem Elbeltagi Department of Pediatric Faculty of MedicineTanta UniversityTanta 31511AlghrabiaEgypt Department of Pediatrics University Medical CenterKing Abdulla Medical CityArabian Gulf UniversityManama 26671ManamaBahrain medical Microbiology Section Department of PathologySalmaniya Medical ComplexMinistry of HealthKingdom of BahrainManama 26671ManamaBahrain medical Microbiology Section Department of PathologyIrish Royal College of Surgeon in BahrainBusaiteen 15503MuharraqBahrain Department of Pulmonology Faculty of MedicineTanta UniversityTanta 31527AlghrabiaEgypt Department of Pulmonology University Medical CenterKing Abdulla Medical CityArabian Gulf UniversityManama 26671ManamaBahrain Department of Medicine The Royal College of Surgeons in Ireland-BahrainBusiateen 15503MuharraqBahrain

BACKGROUND Pulse oximetry has become a cornerstone technology in healthcare,providing non-invasive monitoring of oxygen saturation levels and pulse *** its widespread use,the technology has inherent limitations and challenges that must be addressed to ensure accurate and reliable patient *** To comprehensively evaluate the advantages,limitations,and challenges of pulse oximetry in clinical practice,as well as to propose recommendations for optimizing its *** A systematic literature review was conducted to identify studies related to pulse oximetry and its applications in various clinical *** articles were selected based on predefined inclusion and exclusion criteria,and data were synthesized to provide a comprehensive overview of the *** Pulse oximetry offers numerous advantages,including non-invasiveness,real-time feedback,portability,and ***,several limitations and challenges were identified,including motion artifacts,poor peripheral perfusion,ambient light interference,and patient-specific factors such as skin pigmentation and hemoglobin *** for optimizing pulse oximetry use include technological advancements,education and training initiatives,quality assurance protocols,and interdisciplinary *** Pulse oximetry is crucial in modern healthcare,offering invaluable insights into patients’oxygenation *** its limitations,pulse oximetry remains an indispensable tool for monitoring patients in diverse clinical *** implementing the recommendations outlined in this review,healthcare providers can enhance the effectiveness,accessibility,and safety of pulse oximetry monitoring,ultimately improving patient outcomes and quality of care.

关键词： Pulse oximetry Oxygen saturation Monitoring Advantages Limitations Challenges Recommendations Clinical practice Non-invasive Children

Candidemia chronicles:Retrospective analysis of candidemia epidemiology,species distribution,and antifungal susceptibility patterns in Bahrain

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World Journal of Virology 2024年第4期13卷 74-88页

作者： Nermin Kamal Saeed Safiya Almusawi Mohammed Al-Beltagi medical Microbiology Section Department of PathologySalmaniya Medical ComplexGovernmental HospitalsManama 12Bahrain Department of medical Microbiology Royal College of Surgeons in Ireland-BahrainBusaiteen 15503Bahrain Department of Pediatric Faculty of MedicineTanta UniversityTanta 31511Egypt Department of Pediatric University Medical CenterKing Abdulla Medical CityArabian Gulf UniversityManama 26671Bahrain

BACKGROUND Invasive fungal infections,particularly candidemia,pose significant clinical challenges *** local epidemiology,species distribution,and antifungal susceptibility patterns is crucial for effective management despite regional *** To investigate the epidemiology,species distribution,antifungal susceptibility patterns,and associated risk factors of candidemia among patients in Bahrain from 2021 to *** This retrospective study analyzed demographic data,Candida species distribution,antifungal susceptibility profiles,and risk factors among candidemia patients treated at a tertiary care hospital in Bahrain over three *** was collected from medical records and analyzed using descriptive *** A total of 430 candidemia cases were *** mean age of patients was 65.7 years,with a mortality rate of 85.5%.Candida albicans(***)was the most common species,followed by Candida parapsilosis,Candida tropicalis(***),and emerging multidrug-resistant Candida auris(***).Antifungal susceptibility varied across species,with declining susceptibility to azoles observed,particularly among *** and *** risk factors included central venous catheters,broad-spectrum antibiotics,and surgical *** This study highlights the substantial burden of candidemia among older adults in Bahrain,characterized by diverse Candida *** also concerns levels of antifungal resistance,notably in *** findings underscore the importance of local epidemiological surveillance and tailored treatment strategies to improve outcomes and mitigate the spread of multidrug-resistant Candida *** research should focus on molecular resistance mechanisms and optimizing therapeutic approaches to address this growing public health concern.

关键词： Candidemia Fungal infections Antifungal resistance Epidemiology Risk factors Antifungal susceptibility Bahrain

Decoding the genetic landscape of autism:A comprehensive review

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World Journal of Clinical Pediatrics 2024年第3期13卷 98-136页

作者： Mohammed Al-Beltagi Nermin Kamal Saeed Adel Salah Bediwy Eman A Bediwy Reem Elbeltagi Department of Pediatric Faculty of MedicineTanta UniversityAlghrabiaTanta 31511Egypt Department of Pediatric University Medical CenterKing Abdulla Medical CityArabian Gulf UniversityManama 26671Bahrain medical Microbiology Section Department of PathologySalmaniya Medical ComplexMinistry of HealthKingdom of BahrainManama 12Bahrain medical Microbiology Section Department of PathologyIrish Royal College of SurgeonMuharraqBusaiteen 15503Bahrain Department of Pulmonology Faculty of MedicineTanta UniversityAlghrabiaTanta 31527Egypt Department of Pulmonology University Medical CenterKing Abdulla Medical CityArabian Gulf UniversityManama 26671Bahrain Internal Medicine Faculty of MedicineTanta UniversityAlgharbiaTanta 31527Egypt Department of Medicine The Royal College of Surgeons in Ireland-BahrainMuharraqBusiateen 15503Bahrain

BACKGROUND Autism spectrum disorder(ASD)is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic *** advancements in genetic and epigenetic research have provided insights into the intricate mechanisms contributing to ASD,influencing both diagnosis and therapeutic *** To explore the genetic architecture of ASD,elucidate mechanistic insights into genetic mutations,and examine gene-environment *** A comprehensive systematic review was conducted,integrating findings from studies on genetic variations,epigenetic mechanisms(such as DNA methylation and histone modifications),and emerging technologies[including Clustered Regularly Interspaced Short Palindromic Repeats(CRISPR)-Cas9 and single-cell RNA sequencing].Relevant articles were identified through systematic searches of databases such as PubMed and Google *** Genetic studies have identified numerous risk genes and mutations associated with ASD,yet many cases remain unexplained by known factors,suggesting undiscovered genetic *** insights into how these genetic mutations impact neural development and brain connectivity are still *** modifications,particularly DNA methylation and non-coding RNAs,also play significant roles in ASD *** technologies like CRISPR-Cas9 and advanced bioinformatics are advancing our understanding by enabling precise genetic editing and analysis of complex genomic *** Continued research into the genetic and epigenetic underpinnings of ASD is crucial for developing personalized and effective *** efforts integrating multidisciplinary expertise and international collaborations are essential to address the complexity of ASD and translate genetic discoveries into clinical *** unresolved questions and ethical considerations surrounding genetic research will pave the way for improved diagnostic tools and targ

关键词： Autism spectrum disorder Genetics Epigenetics Clustered Regularly Interspaced Short Palindromic Repeats-Cas9 Gene-environment interactions Personalized medicine

Exploring the Prevalence and Contributing Factors of Depression among Sickle Cell Anemia Patients in Saudi Arabia’s Jazan Region

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International Journal of Mental Health Promotion 2024年第5期26卷 351-359页

作者： Abdullah A.Alharbi Ahmad Y.Alqassim Mohammed A.Muaddi Najat H.Aldubayyan Rana I.Abuhadi Futon A.Akoor Sarah J.Mobarki Imtenan A.Oberi Ghaidaa H.Alharbi Yara Ajeebi Adnan M.Alkhayat Hafiz Malhan Mohammed Bakkar Anwar M.Makeen Family and Community Medicine Department Faculty of MedicineJazan UniversityJazan45142Saudi Arabia Laboratory Department King Fahd Central HospitalMinistry of HealthJazan45142Saudi Arabia Internal Medicine Department Prince Mohammad bin Nasser HospitalMinistry of HealthJazan45142Saudi Arabia Hematology Department King AbdulAziz Medical City for National GuardRiyadh11426Saudi Arabia

Sickle Cell Anemia(SCA)is a prevalent genetic condition in Saudi Arabia,particularly in the Jazan *** study’s purpose was to assess the prevalence of de-pression among individuals with SCA in this area and to identify the factors associated with this *** study involved 391 adult participants,all patients in the hematology center of Prince Mohammed bin Nasser Hospital(PMNH).Data was collected through an anonymous interview questionnaire–the Arabic version of the Patient Health Questionnaire-9(PHQ-9)–between March–May *** questionnaire covered socio-demographic information and variables related to the participant’s SCA history,such as pain levels,frequency of pain,hospitalization duration,and frequency of blood *** variables underwent Chi-square and One-way ANOVA testing,followed by multivariate *** study found a 42%prevalence of depression among the SCA *** significantly linked with heightened depression levels included being widowed or divorced,experiencing frequent and severe pain,and longer duration of hospital *** educational level of at least a bachelor’s degree was also a significant *** study reveals a high prevalence of depression among SCA patients in the Jazan *** underscores the need for policymakers to educate both physicians and patients about the importance of mental health in SCA *** study also highlights the need for more research into the specific causes and effects of depressive symptoms in SCA patients to inform the creation of effective management plans.

关键词： Sickle cell anemia prevalence depression public health policy Jazan region Saudi Arabia

Contemporary Study for Detection of COVID-19 Using Machine Learning with Explainable AI

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Computers, Materials & Continua 2024年第7期80卷 1075-1104页

作者： Saad Akbar Humera Azam Sulaiman Sulmi Almutairi Omar Alqahtani Habib Shah Aliya Aleryani Department of Computer Science University of KarachiKarachi75270Pakistan Department of Computing Faculty of Engineering Science and TechnologyHamdard UniversityKarachi75540Pakistan Department of Health Informatics College of Applied Medical SciencesQassim UniversityQassim51452Saudi Arabia Department of Computer Science College of Computer ScienceKing Khalid UniversityAbha61421Saudi Arabia

The prompt spread of COVID-19 has emphasized the necessity for effective and precise diagnostic *** this article,a hybrid approach in terms of datasets as well as the methodology by utilizing a previously unexplored dataset obtained from a private hospital for detecting COVID-19,pneumonia,and normal conditions in chest X-ray images(CXIs)is proposed coupled with Explainable Artificial Intelligence(XAI).Our study leverages less preprocessing with pre-trained cutting-edge models like InceptionV3,VGG16,and VGG19 that excel in the task of feature *** methodology is further enhanced by the inclusion of the t-SNE(t-Distributed Stochastic Neighbor Embedding)technique for visualizing the extracted image features and Contrast Limited Adaptive Histogram Equalization(CLAHE)to improve images before extraction of ***,an AttentionMechanism is utilized,which helps clarify how the modelmakes decisions,which builds trust in artificial intelligence(AI)*** evaluate the effectiveness of the proposed approach,both benchmark datasets and a private dataset obtained with permissions from Jinnah Postgraduatemedical center(JPMC)in Karachi,Pakistan,are *** 12 experiments,VGG19 showcased remarkable performance in the hybrid dataset approach,achieving 100%accuracy in COVID-19 *** classification and 97%in distinguishing normal ***,across all classes,the approach achieved 98%accuracy,demonstrating its efficiency in detecting COVID-19 and differentiating it fromother chest disorders(Pneumonia and healthy)while also providing insights into the decision-making process of the models.

关键词： COVID-19 detection deep neural networks support vector machine CXIs InceptionV3 VGG16 VGG19 t-SNE embedding CLAHE attention mechanism XAI