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Genes & Diseases 2023年第1期10卷 45-47页

作者： Fatimah A.Alsaffar Ahmed H.Mujamammi Mohammed S.K.Aldughaim Martin J.H.Nicklin Michael D.Barker Department of Oncology&Metabolism University of Sheffield Medical SchoolSheffield S102RXUK Department of Infection Immunity&Cardiovascular Disease University of Sheffield Medical SchoolSheffield S102RXUK

Tissue inhibitor of metalloproteinases 3(TIMP3)regulates turnover of the extracellular matrix(ECM)and is also a potent inhibitor of the vascular endothelial growth factor receptor 2(VEGFR2),a key mediator of *** in TIMP3 give rise to Sorsby's fundus dystrophy(SFD),a dominantly inherited degenerative disease of the retina that leads to blindness,usually in middle age.

关键词： TIMP3 VEGFR2 impaired

Accelerated tooth movement in Rsk2-deficient mice with impaired cementum formation

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International Journal of Oral Science 2020年第4期12卷 338-345页

作者： Cita Nottmeier Maximilian G.Decker Julia Luther Simon von Kroge Bärbel Kahl-Nieke Michael Amling Thorsten Schinke Julian Petersen Till Koehne Department of Orthodontics University Medical Center Hamburg-EppendorfHamburgGermany Institute of Osteology and Biomechanics University Medical Center Hamburg-EppendorfHamburgGermany

Coffin–Lowry–Syndrome(CLS)is a X-linked mental retardation characterized by skeletal dysplasia and premature tooth *** and others have previously demonstrated that the ribosomal S6 kinase RSK2,mutated in CLS,is essential for bone and cementum formation;however,it remains to be established whether RSK2 plays also a role in mechanically induced bone remodeling during orthodontic tooth movement(OTM).We,therefore,performed OTM in wild-type(WT)mice and Rsk2-deficient mice using Nitinol tension springs that were fixed between the upper left molars and the *** untreated contralateral molars served as internal *** 12 days of OTM,the jaws were removed and examined by micro-computed tomography(μCT),decalcified histology,and *** analysis of the untreated teeth confirmed that the periodontal phenotype of Rsk2-deficient mice is characterized by alveolar bone loss and hypoplasia of root *** of OTM usingμCT revealed that OTM was more than two-fold faster in Rsk2-deficient mice as compared to *** also observed that OTM caused alveolar bone loss and root resorptions in WT and Rsk2-deficient ***,quantification of these orthodontic side effects revealed no differences between WT and Rsk2-deficient *** together,Rsk2 loss-of-function accelerates OTM in mice without causing more side effects.

关键词： impaired deficient movement

Severe COVID-19 patients exhibit an ILC2 NKG2D^(+) population in their impaired ILC compartment

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Cellular & Molecular Immunology 2021年第2期18卷 484-486页

作者： Alejandra Gomez-Cadena Laurie Spehner Marie Kroemer Myriam Ben Khelil Kevin Bouiller Grégory Verdeil Sara Trabanelli Christophe Borg Romain Loyon Camilla Jandus Department of Pathology and Immunology University of GenevaGenevaSwitzerlandand Ludwig Institute for Cancer ResearchLausanneSwitzerland University of Bourgogne Franche-Comté INSERMEFS BFCUMR1098RIGHT Interactions Greffon-Hôte-Tumeur/Ingénierie Cellulaire et GéniqueF-25000BesançonFrance Department of Pharmacy University Hospital of BesançonF-25000BesançonFrance Department of Infectious Disease University Hospital of BesançonF-25000BesançonFrance UMR-CNRS 6249 Chrono-Environment UniversitéBourgogne Franche-ComtéF-25000BesançonFrance Department of Oncology UNIL-CHUVUniversity of Lausanne1066EpalingesSwitzerland Department of Medical Oncology University Hospital of BesançonF-25000BesançonFrance

Severe acute respiratory syndrome coronavirus 2(SARS-CoV-2)is responsible for the current COVID-19 disease *** some patients,the symptoms are mild,and a fraction of SARS-CoV-2-infected individuals develop severe illness with a high fatality rate due to lung damage and acute respiratory distress syndrome.1 Innate lymphoid cells(ILCs)are a recently identified type of effector immune cells that rapidly sense environmental stimuli and participate in early immune responses by promptly secreting large amounts of cytokines.2 The ILC2 subpopulation was shown to mediate Type 2 responses and to recruit eosinophils during viral lung infections upon the release of alarmins(e.g.,IL-33)by damaged epithelial cells.3,4,5 ILC2s were also shown to participate in the termination of inflammatory responses and tissue repair by amphiregulin *** addition,ILC2s are critical in the early phases of allergic lung inflammation,including that induced by the protease allergen papain.6 Based on the essential function of the papain-like protease PLpro in regulating SARS-CoV-27(Fig.1a)and the severe lung damage caused by this virus,we sought to investigate the potential involvement of ILC2s in immune responses to COVID-19.

关键词： impaired patients acute

Role of the glymphatic system in ageing and diabetes mellitus impaired cognitive function

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Stroke & Vascular Neurology 2019年第2期4卷 90-92页

作者： Li Zhang Michael Chopp Quan Jiang Zhenggang Zhang Department of Neurology Henry Ford HospitalDetroitMichiganUSA Department of Physics Oakland UniversityRochesterMichiganUSA

Diabetes mellitus (DM) is a common metabolic disease in the middle-aged and older population, and is associated with cognitive impairment and an increased risk of developing dementia. The glymphatic system is a recently characterised brain-wide cerebrospinal fluid and interstitial fluid drainage pathway that enables the clearance of interstitial metabolic waste from the brain parenchyma. Emerging data suggest that DM and ageing impair the glymphatic system, leading to accumulation of metabolic wastes including amyloid-β within the brain parenchyma, and consequently provoking cognitive dysfunction. In this review, we concisely discuss recent findings regarding the role of the glymphatic system in DM and ageing associated cognitive impairment.

关键词： impaired mellitus system

Investigation of the transcriptomic and metabolic changes associated with superficial scald physiology impaired by lovastatin and 1-methylcyclopropene in pear fruit(cv.“Blanquilla”)

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Horticulture Research 2020年第1期7卷 2229-2245页

作者： Jordi Giné-Bordonaba Nicola Busatto Christian Larrigaudière Violeta Lindo-García Gemma Echeverria Urska Vrhovsek Brian Farneti Franco Biasioli Concetta De Quattro Marzia Rossato Massimo Delledonne Fabrizio Costa XaRTA-Postharvest Institute for Food and Agricultural Research and Technology(IRTA)Edifici FruitcentreParc Científic i Tecnològic Agroalimentari de Lleida25003 LleidaSpain Department of Genomics and Biology of Fruit Crops Research and Innovation CentreFondazione Edmund Machvia Mach 138010 San Michele all’AdigeTrentoItaly Department of Food Quality and Nutrition Research and Innovation CentreFondazione Edmund Machvia Mach 138010 San Michele all’AdigeTrentoItaly Department of Biotechnology University of VeronaStrada le Grazie 1537134 VeronaItaly Center Agriculture Food Environment University of Trentovia Mach 138010 San Michele all’AdigeTrentoItaly

To elucidate the physiology underlying the development of superficial scald in pears,susceptible“Blanquilla”fruit was treated with different compounds that either promoted(ethylene)or repressed(1-methylcyclopropene and lovastatin)the incidence of this disorder after 4 months of cold *** data show that scald was negligible for the fruit treated with 1-methylcyclopropene or lovastatin,but highly manifested in untreated(78%incidence)or ethylenetreated fruit(97%incidence).The comparison between the fruit metabolomic profile and transcriptome evidenced a distinct reprogramming associated with each *** all treated samples,cold storage led to an activation of a cold-acclimation-resistance mechanism,including the biosynthesis of very-long-chain fatty acids,which was especially evident in 1-methylcyclopropane-treated *** the treatments applied,only 1-methylcyclopropene inhibited ethylene production,hence supporting the involvement of this hormone in the development of ***,a common repression effect on the PPO gene combined with higher sorbitol content was found for both lovastatin and 1-methylcyclopropene-treated samples,suggesting also a non-ethylene-mediated process preventing the development of this *** results presented in this work represent a step forward to better understand the physiological mechanisms governing the etiology of superficial scald in pears.

关键词： superficial impaired hence

Coexistence of acne inversa with psoriasis and Dowling-Degos disease harboring impaired PSENEN-Notch signaling

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Chinese Medical Journal 2020年第19期133卷 2383-2385页

作者： Xue-Min Xiao Peng-Jun Zhou Chang-Hua Zhu Li-Hang Lin Jing-Jing Liu Yue Han Department of Dermatology the Union HospitalFujian Medical UniversityFuzhouFujian 350001China Department of Dermatology the Second Affiliated HospitalFujian Medical UniversityQuanzhouFujian 362000China.

To the Editor:Acne inversa(AI),also known as hidradenitis suppurativa,is a chronic recurrent inflammatory skin disease characterized by deep painful nodules and abscesses with resultant scarring mainly distributed in intertriginous ***-of-function mutations in g-secretase(GS)genes are responsible for familial AI.[1]GS is a transmembrane protease composed of four essential protein subunits:one catalytic presenilin subunit(PSEN)and three cofactor subunits(nicastrin[NCSTN],presenilin enhancer 2[PSENEN],anterior pharynx defective 1).GS is involved in cleavage of various type I membrane proteins,including amyloid precursor protein and Notch *** directly binds to PSEN and is required for its autocatalytic cleavage and protease *** date,six mutations have been reported in PSENEN,all of which result in frameshift truncations and altered protein products,predominantly leading to haploinsufficiency.[2]Psoriasis is a genetically-determined proliferative and inflammatory entity,resulting from complex interactions between aberrant keratinocyte proliferation and differentiation,and a T-lymphocytemediated immune ***-Degos disease(DDD),a rare autosomal dominant disorder,is characterized by progressive reticulate hyperpigmentation and small darkbrown hyperkeratotic papules,mainly affecting flexural areas.[3]Herein,we report a proband and three other members of a three-generation Chinese Han AI family with co-occurrence of psoriasis and DDD,respectively.

关键词： Notch impaired psoriasis

impaired Hearing in Mitochondrial Disorders

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Chinese Medical Journal 2015年第13期128卷 1839-1839页

作者： Josef Finsterer Sinda Zarrouk-Mahjoub Krankenanstalt Rudolfstiftung Vienna Austria Genomics Platform Pasteur institute of Tunis Tunis Tunisia

To the Editor： With interest, we read the article reported by Liu et al. about the frequency of central and peripheral auditory system affection in 73 patients with a mitochondrial disorder （MID） due to mitochondri... 详细信息

关键词： impaired Hearing Disorders

Osteogenesis imperfecta mutations in plastin 3 lead to impaired calcium regulation of actin bundling

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Bone Research 2020年第3期8卷 320-332页

作者： Christopher L.Schwebach Elena Kudryashova Weili Zheng Matthew Orchard Harper Smith Lucas A.Runyan Edward H.Egelman Dmitri S.Kudryashov Department of Chemistry and Biochemistry The Ohio State UniversityColumbusOH 43210USA Molecular Cellular and Developmental Biology graduate program The Ohio State UniversityColumbusOH 43210USA Department of Biochemistry and Molecular Genetics University of VirginiaCharlottesvilleVA 22908USA Biophysics graduate program The Ohio State UniversityColumbusOH 43210USA

Mutations in actin-bundling protein plastin 3(PLS3)emerged as a cause of congenital osteoporosis,but neither the role of PLS3 in bone development nor the mechanisms underlying PLS3-dependent osteoporosis are *** the over 20 identified osteoporosis-linked PLS3 mutations,we investigated all five that are expected to produce full-length *** of the mutations distorted an actin-binding loop in the second actin-binding domain of PLS3 and abolished F-actin bundling as revealed by cryo-EM reconstruction and protein interaction ***,the remaining four mutants fully retained F-actin bundling ***,they displayed defects in Ca2+sensitivity:two of the mutants lost the ability to be inhibited by Ca2+;while the other two became hypersensitive to *** group of the mutants with similar biochemical properties showed highly characteristic cellular ***-type PLS3 was distributed between lamellipodia and focal *** striking contrast,the Ca2+-hyposensitive mutants were not found at the leading edge but localized exclusively at focal adhesions/stress fibers,which displayed reinforced ***,the Ca2+-hypersensitive PLS3 mutants were restricted to lamellipodia,while chelation of Ca2+caused their redistribution to focal ***,the bundling-deficient mutant failed to co-localize with any F-actin structures in cells despite a preserved F-actin binding through a non-mutation-bearing actin-binding *** findings revealed that severe osteoporosis can be caused by a mutational disruption of the Ca2+-controlled PLS3’s cycling between adhesion complexes and the leading *** of the structural,biochemical,and cell biology insights enabled us to propose a molecular mechanism of plastin activity regulation by Ca2+.

关键词： cycling impaired striking

Educational Game about Drugs for Visually impaired People: A Comparison between Brazil and Portugal

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Open Journal of Nursing 2017年第3期7卷 399-408页

作者： Monaliza Ribeiro Mariano Lorita Marlena Freitag Pagliuca Paula Marciana Pinheiro de Oliveira Paulo César de Almeida Adriana Sousa Carvalho de Aguiar Wilson Correia de Abreu Nursing Department University of International Integration Lusophone African-Brazilian Ceará Brazil Nursing Department Senior Research Federal University of Ceará Ceará Brazil Nursing Department State University of Ceará Ceará Brazil Nursing Department Faculty Integrated Grande Fortaleza Fortaleza Brazil Nursing School of Porto Porto Portugal

Objective: To validate the educational board game “Drugs: playing fair” for visually impaired people in Brazil and Portugal. Methods: Study of apparent validation carried out in two associations for visually impaired people in Fortaleza, Brazil, and in Porto, Portugal. Thirty-six visually impaired people, 18 from each country, participated in the study. An evaluation tool with 23 items on specifications, content and motivation of the game was applied. Results: The scores awarded in both countries were excellent, with means varying in Brazil from 9.0 to 9.6 and in Portugal, from 8.4 to 9.2. As for the categories and subcategories, the best means in Brazil were: content (9.5);theoretical and methodological consistency (9.6) and concepts/information (9.5). In Portugal, the best means were concepts/information (9.2) and curiosity (9.2). Only two items showed a significant difference: “it allows interaction” (p = 0.024) and “compatible degree of difficulty” (p = 0.012). Conclusion: The educational game on drugs was validated in Brazil and Portugal.

关键词： Validation Studies Health Promotion Play and Playthings Nursing Visually impaired Persons

Development of Nursing Protocol for Preventing Discontinuation of Treatments by Methods Other than Physical Restraint during Acute Exacerbation of Chronic Heart Failure in Patients with impaired Cognitive Function

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Health 2018年第6期10卷 789-815页

作者： Haruka Otsu Shiori Fujimoto Nozomi Murakami Tatsuki Ohhara Yoko Takeya Tatsuya Ohno Chieko Suzuki Sanae Takahashi Graduate School of Health Sciences Hirosaki University Hirosaki City Japan Japan Community Health Care Organization Shiga Hospital Shiga Japan Akita Prefecture Health Agricultural Cooperative Association Hiraka General Hospital Yokote Japan Akita Prefecture Health Agricultural Cooperative Association Koto Kosei Hospital Hachirogata Japan Aomori Prefectural Central Hospital Aomori Japan Medical Corporation Association Seikokai Hirano Synthesis Hospital Gifu Japan Ugo Municipal Hospital Ugo Japan Omagari Nakadori Hospital Omagari Japan

The purpose of this study is to prepare a nursing protocol for preventing discontinuation of treatments using a method other than physical restraint during acute exacerbation of chronic heart failure in patients with impaired cognitive function. For the first stage of the study, we prepared a draft of the nursing protocol based on a basic survey. For the second stage, semi-structured interviews were conducted with 5 nurses specialized in chronic heart failure and 10 nurses in dementia case to ensure content validity of the draft protocol. For the third stage, we examined the possibility of clinical application of the revised version of the protocol draft prepared in the second stage of the study. For assessment items, significant points of nursing care, and specific nursing care practice in this revised version, 154 subjects (93.9%) considered effective for patients, in terms of prevention of treatment discontinuation using a method other than physical restraint. All items and contents were considered useful by more than 60% of the nurses. Considering that the nurses working in the clinical setting reported 93.9% of usefulness, we concluded that this nursing protocol remained valid at a certain level. We also received a comment from the certified nurses that we should include the basic contents for newly graduated nurses. We consider that this nursing protocol will be also useful for newly graduated nurses to acquire knowledge. It helped to standardize nursing care in order to predict potential risks for patients with impaired cognitive function.

关键词： Dementia impaired Cognitive Function Acute Exacerbation of Chronic Heart Failure Physical Restraint Nursing Protocol