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Genotypes and Phenotypes of Uygur Children with Xeroderma Pigmentosum: A Case Study in Xinj.ang, China

International j.urnal of Dermatology and Venereology 2024年第3期7卷 144-149页

作者： Qiu Y. Wang W.-j. Liang j.-Q. Yakeya B. Wang P. Zhang j.-Z. Kang X.-j. Department of Dermatology and Venereology People's Hospital of Xinjiang Uygur Autonomous Region Xinjiang Uygur Autonomous Region Urumqi 830001 China Xinj.ang Clinical Research Center for Dermatologic Diseases Xinjiang Uygur Autonomous Region Urumqi 830001 China Xinj.ang Key Laboratory of Dermatology Research (Xj.S1707) Xinjiang Uygur Autonomous Region Urumqi 830001 China

Obj.ctive: Xeroderma pigmentosum (XP) is a rare autosomal recessive dermatosis caused by genetic defects of DNA repair. This study was performed to detect and analyze the genes of 2 Uygur patients with XP and their families and assess the patients' phenotypes, which may enrich the understanding of the genetic skin disorder spectrum in Xinj.ang area. Methods: We collected the clinical data from 2 patients with XP and peripheral blood samples from the patients and their family members. The patients' DNA was sequenced and detected by Sanger sequencing, and gene mutations were screened. Results: The proband in family 1 presented with brown maculae at the exposure site and squamous cell carcinoma secondary to a facial rash. The proband had a homozygous nucleotide variation of XPC c.2251-2A> G (A change from A to G in the penultimate position of the intron before the 2251 position in the coding region), which was a shear mutation. In this family, both parents were heterozygous, and no similar mutation detected in the sister. In family 2, the proband had scattered black brown spots and papules on the trunk and limbs. and his younger sister was also a patient. The proband and his younger sister had homonucleotide variation of XPA c.631C> T, which was nonsense mutation, resulting in the codon for Arg No.211 being changed into termination codon (***211X), thus terminating the peptide chain synthesis prematurely. All the normal individuals in the two families were heterozygotes, and homozygous mutations occurred in all the patients, which was consistent with the autosomal recessive inheritance. Conclusion: XP is rare in Uygur population. This study expanded the mutation spectrum of XP and provided a basis for early diagnosis, treatment, prognostic prediction, and prenatal genetic consultation. © 2022 Hospital for Skin Diseases (Institute of Dermatology), Chinese Academy of Medical Sciences, and Chinese Medical Association, published by Wolters Kluwer, Inc.

关键词： gene mutation xeroderma pigmentosum XPA gene XPC gene

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Exploring public perception and willingness to pay for a renewable source of energy: evidence from an emerging economy of renewable-energy development

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CLEAN ENERGY 2024年第2期8卷 177-188页

作者： Bashir, Mohammed j. K. Abdelhak, Senadj.i Salah, Wael A. Abuhelwa, Mai Cent Queensland Univ Sch Engn & Technol 120 Spencer St Melbourne Qld 3000 Australia Univ Tunku Abdul Rahman Fac Business & Finance Kampar Perak Malaysia Palestine Tech Univ Kadoorie Coll Engn & Technol Dept Elect Engn POB 7 Yafa St Tulkarm Palestine Univ Missouri Dept Elect Engn & Comp Sci Columbia MO 65211 USA

The study focuses on the transition from conventional energy sources to sustainable renewable energy (RE) in Palestine, particularly in the West Bank and Gaza Strip. The research aims to understand the relationship between key factors and residents' willingness to invest in the RE sector, with a specific focus on the impact of education. Using the unified theory of acceptance and use of technology, the study analyzes data from 400 residents through a questionnaire and employs ordinary least-squares regression analysis with Eviews 12. The key findings indicate that residents' inclination to invest in RE is significantly influenced by factors such as resource availability, knowledge level and power outages. Moreover, the study suggests that educated residents are more likely to invest in RE when factors such as knowledge, effort expectation, enabling conditions and resource availability are relatively high. The conclusion emphasizes the importance of policymakers' allocating sufficient funds to research and development to promote technological innovation in RE sources, thereby enhancing the population's energy efficiency. The study focuses on the transition from conventional energy to sustainable renewable energy in Palestine, particularly in the West Bank and Gaza Strip, to understand the relationship between key factors and residents' willingness to invest in the RE sector, with a specific focus on the impact of education. Graphical Abstract

关键词： renewable energy technology energy security public perceptions sustainable development UNIFIED THEORY RURAL-AREAS TECHNOLOGY ACCEPTANCE DETERMINANTS INTENTION RELIABILITY SERVICES SYSTEM ERRORS

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Use of ketamine for severe asthma exacerbation in a pregnant patient with persistent bronchospasm: A case report

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Emergency and Critical Care Medicine 2024年第3期4卷 130-133页

作者： j.hnson M. Abbas M. Abdo j. Mansour M. j.nes j. Pharmacy Department Beaumont Health Dearborn MI United States Emergency Center Beaumont Health Dearborn MI United States

Background Estimated 4%-8% of pregnancies are complicated by asthma. Adequate management in this population is critical to minimize complications. Patients presenting with asthma exacerbation are typically managed with standard bronchodilators and systemic corticosteroids. However, additional agents may be used in patients with refractory asthma exacerbation. Ketamine has been used in refractory bronchospasm, although its efficacy in published literature is heterogeneous. Case Presentation We present a case of a pregnant patient with severe asthma exacerbation refractory to standard and salvage treatment who achieved termination of bronchospasm with ketamine infusion. Conclusion After receiving ketamine infusion for several days, the patient had improved air flow and achieved successful extubation, without experiencing rebound bronchospasm. Although this individual clinical case alone cannot change guidelines or directives to use in refractory asthma exacerbations, it offers a possible treatment option to patients and providers in unusually severe cases with extenuating risk factors. © Wolters Kluwer Health, Inc. All rights reserved.

关键词： Asthma Bronchospasms Case Report Ketamine Pregnancy

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SCFD1 in amyotrophic lateral sclerosis:reconciling a genetic association with in vivo functional analysis

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Neural Regeneration Research 2024年第6期19卷 1201-1202页

作者： Ruben j.Cauchi Centre for Molecular Medicine and Biobanking Biomedical Sciences BuildingDepartment of Physiology and BiochemistryFaculty of Medicine and SurgeryUniversity of MaltaMsidaMalta

Amyotrophic lateral sclerosis(ALS)is a neurodegenerative disease characterized by progressive loss of upper and lower motor neurons,resulting in muscle weakness and spasticity,eventually leading to death due to respiratory *** by our group of a casecontrol cohort from an isolated island population have found that genetics plays a significant role in disease etiology(Farrugia Wismayer et al.,2023).

关键词： sclerosis respiratory

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Long-term monitoring of cycles in Clethrionomys rutilus in the Yukon boreal forest

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Integrative Zoology 2024年第1期19卷 27-36页

作者： Charles j.KREBS Alice j.KENNEY B.Scott GILBERT Rudy BOONSTRA Department of Zoology University of British ColumbiaVancouverBritish ColumbiaCanada Renewable Resources Management Program Yukon UniversityWhitehorseYukonCanada Department of Biological Sciences University of Toronto ScarboroughTorontoOntarioCanada

Baseline studies of small rodent populations in undisturbed ecosystems are *** report here 50 years of mon-itoring and experimentation in Yukon of a dominant rodent species in the North American boreal forest,the red-backed vole Clethrionomys *** voles breed in summer,weigh 20–25 g,and reach a maximum density of 20 to 25 per *** populations have shown consistent 3–4-year cycles for the last 50 years with the only change being that peak densities averaged 8/ha until 2000 and 18/ha since that *** the last 25 years,we have measured food resources,predator numbers,and winter weather,and for 1-year social interactions,to estimate their contribution to changes in the rate of summer increase and the rate of overwinter *** these potential limiting factors could contribute to changes in density,and we measured their relative contributions statistically with multiple *** rate of winter decline in density was related to both food supply and winter *** rate of summer increase was related to summer berry crops and white spruce cone *** measure of predator numbers was related to winter or summer changes in vole *** was a large signal of climate change effects in these *** is no density dependence in summer population growth and only a weak one in winter population *** of our results provide a clear understanding of what generates 3–4-year cycles in these voles,and the maj.r missing piece may be an understanding of social interactions at high density.

关键词： boreal forest climate change density dependence population cycles predation winter severity

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Why Don’t We Adequately Identify and Manage Adverse Drug Reactions despite Having the Needed Information?

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Health 2024年第2期16卷 148-159页

作者： Mark j. Kupersmith Karl Kieburtz Department of Neurology Ophthalmology and Neurosurgery Icahn School of Medicine at Mount Sinai New York NY USA SafeTherapeutics LLC New York NY USA Clintrex Research Corporation Sarasota FL USA

Importance/Obj.ctive: Adverse Drug Reactions (ADRs) are unavoidable, but recognizing and addressing ADRs early can improve wellness and prevent permanent inj.ry. We suggest that available medical information and digital/electronic methods could be used to manage this maj.r healthcare problem for individual patients in real time. Methods: We searched the available digital applications and three literature databases using the medical subj.ct heading terms, adverse drug reaction reporting systems or management, filtered by clinical trial or systemic reviews, to detect publications with data about ADR identification and management approaches. We reviewed the reports that had abstract or summary data or proposed or implemented methods or systems with potential to identify or manage ADRs in clinical settings. Results: The vast maj.rity of the 481 reports used retrospectively collected data for groups of patients or were limited to surveying one population group or class of medication. The reports showed potential and definite associations of ADRs for specific drugs and problems, mostly, but not exclusively, for patients in hospitals and nursing homes. No reports described complete methods to collect comprehensive data on ADRs for individual patients in a healthcare system. The digital applications have ADR information, but all are too cumbersome or incomplete for use in active clinical settings. Several studies suggested that providing information about potential ADRs to clinicians can reduce these problems. Conclusion and Relevance: Although investigators and government agencies agree with the need, there is no comprehensive ADR management program in current use. Informing the patient’s healthcare practitioners of potential ADRs at the point of service has the potential for reduction of these complications, which should improve healthcare and reduce unneeded costs.

关键词： Adverse Drug Reaction Medication Side Effect Identification Medication Complication Medication Safety

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A Simulation of the Dependence of Tidal Interaction on Galaxy Type in Compact Groups

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International j.urnal of Astronomy and Astrophysics 2024年第2期14卷 85-100页

作者： Mark j. Henriksen Mateo Mej.a Department of Physics University of Maryland Baltimore USA

We have investigated the role that different galaxy types have in galaxy-galaxy interactions in compact groups. N-body simulations of 6 galaxies consisting of a differing mixture of galaxy types were run to compare the relative importance of galaxy population demographic on evolution. Three different groups with differing galaxy content were tested: all spiral, a single elliptical and 50% elliptical. Tidal interaction strength and duration were recorded to assess the importance of an interaction. A group with an equal number of spiral and elliptical galaxies has some of the longest and strongest interactions with elliptical-elliptical interactions being most significant. These elliptical-elliptical interactions are not dominated by a single large event but consist of multiple interactions. Elliptical galaxies tidally interacting with spiral galaxies, have the next strongest interaction events. For the case when a group only has a single elliptical, the largest magnitude tidal interaction is an elliptical on a spiral. Spirals interact with each other through many small interactions. For a spiral only group, the interactions are the weakest compared to the other group types. These spiral interactions are not dominated by any singular event that might be expected to lead to a merger but are more of an ongoing harassment. These results suggest that within a compact group, early type galaxies will not form via merger out of an assemblage of spiral galaxies but rather that compact groups, in effect form around an early type galaxy.

关键词： Galaxy Groups Galaxy Clusters Galaxy Evolution N-Body Simulations

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Optimizing pain management in elderly patients post-knee surgery:A novel collaborative strategy

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World j.urnal of Clinical Cases 2024年第15期12卷 2475-2478页

作者： Abdulqadir j.Nashwan Department of Nursing Hamad Medical CorporationDoha 3050Qatar

Total knee replacement,a common surgery among the elderly primarily necessitated by osteoarthritis,replaces the damaged knee j.int with an artificial *** the aging population and the increasing prevalence of such surgeries,the article highlights the critical need for effective postoperative care *** editorial provides an overview of rehabilitation care for pain in elderly knee replacement patients,emphasizing the importance of a multimodal approach to postoperative ***,the article advocates for a patient-centered,comprehensive rehabilitation regimen that enhances recovery and quality of life in elderly patients undergoing knee replacement surgery.

关键词： Elderly Postoperative pain management Rehabilitation care Multimodal pain strategy Total knee arthroplasty Enhanced recovery after surgery

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Encroachment drives facilitation at alpine shrublines

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Forest Ecosystems 2024年第1期11卷 62-72页

作者： Yafeng Wang Eryuan Liang j.j.lio Camarero College of Ecology and Environment Nanjing Forestry UniversityNanjing210037China State Key Laboratory of Tibetan Plateau Earth System Environment and Resources(TPESER)Institute of Tibetan Plateau ResearchChinese Academy of SciencesBeijing100101China Instituto Pirenaico de Ecología(IPE-CSIC) Zaragoza50080Spain

Ongoing encroachment is driving recent alpine shrubline dynamics globally,but the role of shrub-shrub interactions in shaping shrublines and their relationships with stem density changes remain poorly ***,the size and age of shrubs from 26 Salix shrubline populations along a 900-km latitudinal gradient(30°-38°N)were measured and mapped across the eastern Tibetan *** pattern analyses were used to quantify the spatial distribution patterns of j.veniles and adults,and to assess spatial associations between *** intensity of univariate and bivariate spatial patterns was related to biotic and abiotic *** mark correlation functions with a quantitative mark(shrub height,basal stem diameter,crown width)were also employed to investigate the spatial relationships between shrub traits of j.veniles and *** equation models were used to explore the relationships among conspecific interactions,patterns,shrub traits and recruitment dynamics under climate *** shrublines showed clustered patterns,suggesting the existence of conspecific *** patterns of j.veniles and conspecific interactions(potentially facilitation)tended to intensify with increasing soil moisture *** warming before 2010 triggered positive effects on population interactions and spatial patterns via increased shrub ***,summer warming after2010 triggered negative effects on interactions through reduced shrub ***,shrub recruitment shifts under rapid climate change could impact spatial patterns,alter conspecific interactions and modify the direction and degree of shrublines responses to *** changes would have profound implications for the stability of alpine woody ecosystems.

关键词： Alpine shrubline Positive interactions Facilitation Spatial clustering Point pattern analyses

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Developing a new agenda for increased food and climate security

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Frontiers of Agricultural Science and Engineering 2024年第1期11卷 35-54页

作者： William j.DAVIES Lancaster Environment Centre Lancaster UniversityLancasterLA14YQUK

In many countries, political and environmental pressures are currently combining to generate a perfect storm of circumstances that is reducing food availability, increasing food costs and thereby reducing the availability of food to many. The UK is currently considering new national food and land management policies, and attention is also being given to legislation to address diet-related health issues. Many now argue for a revolution in UK farming practices to reduce their impact on the natural environment. The UK is not alone in facing these and other challenges. Both the contribution of agriculture to greenhouse gas(GHG) emissions and the effects of climate change on food production are issues receiving worldwide *** agricultural practices can result in greater C capture, reduced GHG emissions, enhanced soil quality and enhanced biodiversity. However, it is questioned if such farming systems will be productive enough to feed a growing population with the food required for social and health benefits. To fully exploit the impact of new plant science in farmer fields, it is imperative to effectively link science to farming practices and conduct a broader conversation around the food revolution with social scientists and with the general public.

关键词： Climate resilience food security human health planetary health regenerative agriculture

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