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Monogenic features of urolithiasis: A comprehensive review

Asian Journal of Urology 2024年第2期11卷 169-179页

作者： Kyo Chul Koo Abdulghafour Halawani Victor K.f.Wong Dirk Lange Ben H.Chew Department of Urology Yonsei University College of MedicineSeoulRepublic of Korea Department of Urology King Abdulaziz UniversityJeddahSaudi Arabia Department of Urological Sciences University of British ColumbiaStone Centre at Vancouver General HospitalVancouverBritish ColumbiaCanada

Objective: Urolithiasis formation has been attributed to environmental and dietary factors. However, evidence is accumulating that genetic background can contribute to urolithiasis formation. Advancements in the identification of monogenic causes using high-throughput sequencing technologies have shown that urolithiasis has a strong heritable ***: This review describes monogenic factors implicated in a genetic predisposition to urolithiasis. Peer-reviewed journals were evaluated by a PubMed search until July 2023 to summarize disorders associated with monogenic traits, and discuss clinical implications of identification of patients genetically susceptible to urolithiasis ***: Given that more than 80% of urolithiases cases are associated with calcium accumulation, studies have focused mainly on monogenetic contributors to hypercalciuric urolithiases, leading to the identification of receptors, channels, and transporters involved in the regulation of calcium renal tubular reabsorption. Nevertheless, available candidate genes and linkage methods have a low resolution for evaluation of the effects of genetic components versus those of environmental, dietary, and hormonal factors, and genotypes remain undetermined in the majority of urolithiasis ***: The pathophysiology underlying urolithiasis formation is complex and multifactorial, but evidence strongly suggests the existence of numerous monogenic causes of urolithiasis in humans.

关键词： Gene Genetic expression Inheritance pattern Urolithiasis

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fGfR3 alterations in bladder cancer:Sensitivity and resistance to targeted therapies

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Cancer Communications 2024年第10期44卷 1189-1208页

作者： Maxim Noeraparast Katarina Krajina Renate Pichler Dora Nieders-Beke Shahrokh f Shariat Viktor Grünwald Sascha Ahyai Martin Pichler Translational Oncology II.Med Clinics Hematology and OncologyAugsburgGermany Department of Urology Medical University of InnsbruckInnsbruckAustria Department of Hematology and Oncology Clinics OttakringViennaAustria Department of Urology Medical University of ViennaViennaAustria Interdisciplinary Genitourinary Oncology Clinic for UrologyClinic for Medical OncologyUniversity Hospital EssenHufelandstrase 55EssenGermany Department of Urology Medical University of GrazGrazAustria

In this review,we revisit the pivotal role of fibroblast growth factor receptor 3(fGfR3)in bladder cancer(BLCA),underscoring its prevalence in both nonmuscle-invasive and muscle-invasive forms of the ***3 mutations in up to half of BLCAs play a well-established role in tumorigenesis,shaping distinct tumor initiation patterns and impacting the tumor microenvironment(TME).Emphasizing the importance of considering epithelial-mesenchymal transition profile and TME status,we revisit their relevance in predicting responses to immune checkpoint inhibitors in fGfR3-mutated *** writing highlights the initially promising yet transient efficacy of the fGfR inhibitor Erdafitinib on fGfR3-mutated BLCA,stressing the pressing need to unravel resistance mechanisms and identify co-targets for future combinatorial studies.A thorough analysis of recent preclinical and clinical evidence reveals resistance mechanisms,including secondarymutations,epigenetic alterations in pathway effectors,phenotypic heterogeneity,and population-specific variations within fGfR3 mutational ***,we discuss the potential of combinatorial treatments and concepts like synthetic lethality for discovering more effective targeted therapies against fGfR3-mutated BLCA.

关键词： Bladder Cancer Erdafitinib fGfR inhibition fGfR3 mutations Resistance to Erdafitinib Tumor Microenvironment

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Assessment of CO_(2)storage prospect based on physical properties of Rio Bonito formation rock units

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Energy Geoscience 2024年第1期5卷 321-330页

作者： Richardson M.Abraham-A Stephanie San Martín Cañas Isabella f.S.Miranda Colombo C.G.Tassinari Institute of Energy and Environment(IEE) University of São Paulo(USP)Brazil Research Centre for Greenhouse Gas Innovation(RCGI) University of Sãao Paulo(USP)Brazil

The physical properties of the rock units associated with the Rio Bonito formation are presented in this study with the focus on modelling reservoir quality based on petrophysics-derived parameters to evaluate CO_(2)storage *** involves the modelling of the reservoir depths,thicknesses,flow zone indicators(fZI),and effective permeability(Keff)and presenting the CO_(2)storage efficiency factors peculiar to the rock units of the study *** results presented by this study for the stated objectives are not quite common in the *** values range from 200 mD to higher than 2000 mD,and fZI values are generally above 1.0 mm and up to 13.0 mm within the portions covered by the drilled *** sandstone units recorded are up to 20 m thick in some *** Keff and fZI models indicate the sandstone reservoirs as permeable units to support the injection and circulation of CO_(2)within the potential reservoir units of the Rio Bonio formation across São Paulo *** from some points in the southeastern part of the study location,where the Rio Bonito are delineated at depths less than 800 m(minimum CO_(2)storage depth based on best practices),other portions are deeper,ranging from 950 m to 3500 ***-bedded layers will affect the integrity of the rocks as CO_(2)storage tanks or reservoir seals/traps/overburden within the *** bed thicknesses are up to 20 m in some ***,hybrid CO_(2)reservoir units are feasible,especially in portions where thin siltstone layers are sandwiched between sandstone units to provide considerable thicknesses based on CO_(2)storage *** current study shows that useable areas considering reservoir thickness,depth,and other physical qualities will significantly control the CO_(2)storage efficiency of the study *** studies featuring a detailed geophysical exploration of the site to confirm the availability and saturations of preexisting fluid(hydrocarbon and water)are encouraged

关键词： Rio Bonito Effective permeability fluid transmissibility CO_(2)storage prospect Reservoir quality Overburden integrity flow zones

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A review:the mechanism of plant-derived polysaccharides on osteoblasts and osteoclasts

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未来食品学报(英文) 2024年第3期4卷 183-192页

作者： Mengjie Ren Adel f.Ahmed Meng Li Menghan Li Zhiruo Yan Jinmei Wang National R&D Center for Edible fungus Processing Technology Henan UniversityKaifeng 475004China Joint International Research Laboratory of food&Medicine Resource function Henan ProvinceKaifeng 475004China Medicinal and Aromatic Plants Researches Department Horticulture Research InstituteAgricultural Research CenterGiza 12511Egypt

Bone loss and deterioration of bone microarchitecture would increase the bone fragility and fracture risk,leading to the *** and more evidences proved that plant-derived polysaccharides could have a remarkable influence on osteoblasts and osteoclasts,exerting anti-osteoporosis *** to the previous research,the extract of Cibotium barumoz,Achyranthes bidentata,Curculigo orchioides,Epimedium brevicornum,Angelica sinensis,Polygonatum sibiricum,Dendrobium officinale,Morinda officinalis,Nelumbo mucifera,Diospyros kaki,Hordeum vulgare,Cistanche deserticola,Commiphora Myrrha and other plant-derived polysaccharides could benefit to the osteoblasts and *** essential mechanisms are mainly related to the activation or inhibition of many factors,including runt-related transcription factor 2(Runx2),B-catenin,osterix(Osx),activator protein-1(AP-1),osteocalcin(OCN/BGP),alkaline phosphatase(ALP),osteopontin(OPN),bone morphogenetic protein(BMP),phosphatidylinositol 3-kinase(PI3K)/C-Jun N-terminal kinase(JNK)/extracellular regulated protein kinase(ERK),osteoprotegerin(OPG),receptor activator of nuclear factor-kB(RANK),monocyte/macrophage colony-stimulating factor(M-CSf),tumor necrosis factor receptor-associated factor 6(TRAf-6),receptor activator of nuclear factor(Nf)-KB ligand(RANKL),nuclear factor of activated T cells 1(NfATc1),c-fos,matrix metallopeptidase-9(MMP-9),glycogen synthase kinase 3β(GSK3B)/B-catenin,nuclear factor E2-related factor 2(Nf2),as well as these related pathways,such as Wnt/p-catenin,BMP-2/SMAD1/5/8,PI3K/AKT,OPG/RANKL/RANK,Nf-κB,MAPKs,*** plant-derived polysaccharides could improve the dynamic balance of bone formation and resorption through promoting the differentiation and maturation of osteoblast or inhibiting its *** reviewed plant-derived polysaccharides and their regulating mechanisms on the osteoclasts and osteoblasts provide the evidences for the development of osteoporosis therapeutics.

关键词： Osteoporosis Plant-derived polysaccharides Osteogenesis promotion Osteoclasts inhibition

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Effect of nutrition-related infodemics and social media on maternal experience: A nationwide survey in a low/middle income country

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World Journal of Clinical Pediatrics 2024年第1期13卷 93-106页

作者： Marwa M Zein Noha Arafa Mortada H f El-Shabrawi Nehal Mohammed El-Koofy Department of Public Health and Community Medicine Cairo UniversityCairo 515211Egypt Department of Pediatric Endocrinology and Diabetes Children's HospitalKasralainy Medical SchoolCairo UniversityCairo 515211Egypt Department of Pediatrics Cairo UniversityCairo 12411Egypt Department of Pediatrics The Children's HospitalCairo UniversityCairo 12411Egypt

BACKGROUND Undernutrition is a crucial cause of morbidity and mortality among children in low-or middle-income countries(LMICs).A better understanding of maternal general healthy nutrition knowledge,as well as misbeliefs,is highly essential,especially in such *** the current era of infodemics,it is very strenuous for mothers to select not only the right source for maternal nutrition information but the correct information as *** To assess maternal healthy nutritional knowledge and nutrition-related misbeliefs and misinformation in an LMIC,and to determine the sources of such information and their assessment *** This cross-sectional analytical observational study enrolled 5148 randomly selected Egyptian mothers who had one or more children less than 15 years *** data were collected through online questionnaire forms:One was for the general nutrition knowledge assessment,and the other was for the nutritional myth *** of information and ways of evaluating internet sources using the Currency,Relevance,Authority,Accuracy,and Purpose test were additionally *** The mean general nutrition knowledge score was 29±9,with a percent score of 70.8%±12.1%(total score:41).The median myth score was 9(interquartile range:6,12;total score:18).The primary sources of nutrition knowledge for the enrolled mothers were social media platforms(55%).Half of the mothers managed information for currency and authority,except for considering the author's contact *** than 60%regularly checked information for accuracy and *** mothers with significant nutrition knowledge checked periodically for the author's contact information(P=0.012).The nutrition myth score was significantly lower among mothers who periodically checked the evidence of the information(P=0.016).Mothers dependent on their healthcare providers as the primary source of their general nutritional knowledge were less likely to hold myths by 13%(P=0.044).However,usi

关键词： Nutrition Infodemics Maternal knowledge Myth Low/middle income country

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Breast cancer immunotherapy:Realities and advances

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Cancer Innovation 2024年第5期3卷 23-36页

作者： Aixa Medina Jeismar Carballo Eglys González‐Marcano Isaac Blanca Ana f.Convit Jacinto Convit World Organization Inc. Pompano BeachFloridaUSA facultad de Medicina Universidad Central de VenezuelaCaracasVenezuela Unidad Experimental de Inmunoterapia Fundación Jacinto ConvitCaracasVenezuela

Breast cancer(BC)is the most common malignant tumor and the main cause of death in women *** increased knowledge regarding tumor escape mechanisms and advances in immunology,many new antitumor strategies such as nonspecific immunotherapies,monoclonal antibodies,anticancer vaccines,and oncolytic viruses,among others,make immunotherapy a promising approach for the treatment of ***,these approaches still require meticulous assessment and readjustment as resistance and modest response rates remain important *** this article,we aim to summarize the most recent data available in BC immunotherapy to include the results of ongoing clinical trials and approved therapies used as monotherapies or in combination with conventional treatments.

关键词： breast cancer immunotherapy metastatic disease therapy combination tumor microenvironment

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feeding ecology and interactions with mammal hosts in a symbiotic genus of birds(Buphagus spp.)in Namibia

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Avian Research 2024年第3期15卷 336-344页

作者： Michael S.Lukubwe Daniel Velarde-Garcéz fernando Sequeira Susana Lopes Adrian J.f.K.Craig Vanessa A.Mata Department of Zoology and Entomology Rhodes UniversityMakhandaSouth Africa Department of Wildlife Management and Tourism Studies University of NamibiaKatima Mulilo CampusNamibia Departamento de Biologia Faculdade de CiênciasUniversidade do PortoPortoPortugal CIBIO Centro de Investigação em Biodiversidade e Recursos GenéticosInBIO Laboratório AssociadoCampus de VairãoVairãoPortugal BIOPOLIS Program in Genomics Biodiversity and Land PlanningCIBIOCampus de VairãoVairãoPortugal

As the sole obligate symbiotic birds in Africa,oxpeckers offer a unique model for studying symbiotic *** to the multitrophic level they occupy and the context dependent foraging behavior they exhibit,the type of symbiotic relationship can be *** addition to providing a cleaning service to the host by removing ticks,oxpeckers frequently feed on blood,mucus,and saliva,inflicting potential damage on the ***,we used DNA metabarcoding on faecal samples to analyze the taxonomic composition of the trophic interactions of the Yellow-billed Oxpecker(Buphagus africanus)and Red-billed Oxpecker(***)in northeastern *** contrast to conventional methods,DNA metabarcoding allows for a detailed identification of dietary resources encompassing both mammal hosts and consumed arthropods within the same *** this information,we examined differences in the diet composition between oxpecker species and localities,as well as the co-occurrence between host and arthropod *** findings revealed that oxpeckers predominantly source their diet from mammals,ticks,and flies;however,ticks and flies rarely co-occur in the diet of an *** observed variability among individuals in their feeding ecology,which is strongly correlated with locality and,to a lesser extent,with the mammal *** noted a high degree of mobility between hosts within relatively short periods,with 32%of the samples showing traces of at least two mammal *** study illustrates the dynamic foraging behavior of these specialized symbiotic birds,shedding light on their potential role in pest control services and disease transmission.

关键词： Commensalism Diet DNA metabarcoding Oxpeckers Parasitism Trophic ecology

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Thirteen years to get from b to a:one of the neglected isoforms of IL-37 enters the stage

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Cellular & Molecular Immunology 2024年第2期21卷 201-202页

作者： Steven X.Cho Ina Rudloff Andrew M.Ellisdon Claudia A.Nold-Petry Marcel f.Nold Ritchie Centre Hudson Institute of Medical ResearchMelbourneVICAustralia Department of Pediatrics Monash UniversityMelbourneVICAustralia Cancer Program Biomedicine Discovery InstituteMonash UniversityMelbourneVICAustralia Monash Newborn Monash Children’s HospitalMelbourneVICAustralia

Interleukin(IL)-37 is one of the few anti-inflammatory members of the predominantly pro-inflammatory IL-1 cytokine ***-37 possesses alarmin-like properties[1]and exerts its activities via intracellular[2]as well as cell surface receptor-dependent mechanisms,and the latter involves IL-1R8 and IL-18Rα[3].Because of its powerful and broad-spectrum“peacemaking”[4]functions,considerable efforts have been invested in developing IL-37-based anti-inflammatory therapeutics[5,6].

关键词： Interleukin neglected cytokine

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Macroscopic Traversable Wormholes: Minimum Requirements

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International Journal of Astronomy and Astrophysics 2024年第3期14卷 230-243页

作者： Peter K. f. Kuhfittig Department of Mathematics Milwaukee School of Engineering Milwaukee USA

While wormholes are just as good a prediction of Einstein’s theory as black holes, they are subject to severe restrictions from quantum field theory. To allow for the possibility of interstellar travel, a macroscopic wormhole would need to maintain sufficiently low radial tidal forces. It is proposed in this paper that the assumption of zero tidal forces, i.e., the limiting case, is sufficient for overcoming the restrictions from quantum field theory. The feasibility of this approach is subsequently discussed by 1) introducing the additional conditions needed to ensure that the radial tidal forces can indeed be sufficiently low and 2) by viewing traversable wormholes as emergent phenomena, thereby increasing the likelihood of their existence.

关键词： Morris-Thorne Wormholes Traversability Minimum Requirements Stability Compatibility with Quantum field Theory

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Hydroxychloroquine in SARS-CoV-2 infection:Understanding the misadventure

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Journal of Acute Disease 2024年第2期13卷 45-52页

作者： David Banji Otilia J f Banji Department of Pharmacology&Toxicology College of PharmacyJazan UniversitySaudi Arabia Department of Clinical Pharmacy College of PharmacyJazan UniversitySaudi Arabia

The widespread outbreak of SARS-CoV-2 was declared a public health emergency by the World Health Organization and various governments *** prompted the implementation of stringent infection control measures to curb the spread of the *** this,the medical community faced the challenge of treating the virus without specific therapies or a vaccine,leading to reliance on empirical treatment *** this context,hydroxychloroquine,an antimalarial and antirheumatic drug,gained attention as a potential treatment *** its theoretical benefits,such as inhibiting viral entry,reducing inflammation,and modulating immune responses,empirical studies yielded inconsistent *** indicated a potential for symptom relief,while others showed no significant improvement in patient *** initial enthusiasm waned as the lack of substantial evidence led to revoking its Emergency Use Authorization,and several clinical trials were prematurely *** review in question critically examines the factors contributing to the ineffectiveness of hydroxychloroquine in treating SARS-CoV-2 infection,highlighting the complexities of drug repurposing during a rapidly evolving pandemic.

关键词： SARS-CoV-2 Hydroxychloroquine Pharmacogenomics TLR signaling Cardiotoxicity

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