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Cholesteryl ester storage disease of clinical and genetic characterisation: A case report and review of literature

World Journal of Clinical Cases 2020年第9期8卷 1642-1650页

作者： Elias Badal Rashu Anders Ellekær Junker karen Vagner Danielsen Emilie Dahl Ole Hamberg line Borgwardt Vibeke Brix Christensen Nicolai J Wewer Albrechtsen lise l Gluud Gastrounit Copenhagen University Hospital HvidovreHvidovre 2650Denmark Department of Hepatology RigshospitaletCopenhagen UniversityCopenhagen 2100Denmark Centre of Genomic Medicine RigshospitaletCopenhagen UniversityCopenhagen 2100Denmark Department of Paediatrics and Adolescent Medicine RigshospitaletCopenhagen UniversityCopenhagen 2100Denmark Novo Nordisk Foundation Center for Protein Research Faculty of Health and Medical SciencesUniversity of CopenhagenCopenhagen 2200Denmark Department for Clinical Biochemistry RigshospitaletUniversity of CopenhagenCopenhagen 2200Denmark

BACKGROUND Cholesteryl ester storage disease(CESD)is a rare genetic *** symptoms and severity are highly *** is a systemic disease that can lead to the accumulation of fat and inflammation in the liver,as well as gastrointestinal and cardiovascular *** majority of patients require liver transplantation due to decompensated *** replacement therapy has been approved based on a randomized *** study aims to clinically and genetically evaluate two siblings with CESD who underwent liver transplantation,as well as their first-degree family *** SUMMARY The siblings were compound heterozygous for the missense variant in lIPA exon 8,c.894G>A,(***298Gln)and a single base pair deletion,c.482del(***161Ilefs*19).Analyses of single nucleotide polymorphisms showed variants with an increased risk of fatty liver disease and fibrosis for both ***,both patients show signs of recurrence of CESD in the liver after transplantation and additional gastrointestinal and cardiovascular signs of *** family members who were lIPA heterozygous had a lysosomal acid lipase activity below the reference *** of these carriers,a seven-year-old boy,was found to have severe dyslipidemia and was subsequently treated with *** Our study underlines that CESD is a multi-organ disease,the progression of which may occur post-liver *** findings underline the need for monitoring of complications and assessment of possible further treatment.

关键词： lysosomal acid lipase deficiency lysosomal storage disease Non-alcoholicfatty liver disease liver transplantation Sebelipase alfa Case report

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Effects of therapeutic horseback riding on post-traumatic stress disorder in military veterans

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Military Medical Research 2018年第1期5卷 19-32页

作者： Rebecca A.Johnson David l.Albright James R.Marzolf Jessica l.Bibbo Hayley D.Yaglom Sandra M.Crowder Gretchen K.Carlisle Amy Willard Cynthia l.Russell karen Grindler Steven Osterlind Marita Wassman Nathan Harms Research Center for Human Animal interaction College of Veterinary Medicine University of Missouri Columbia MO 65211 USA. ResearchService Harry S. Truman Memorial Veterans' Hospital ColumbiaMO 65211 USA. School of Social Work University of AlabamaTuscaloosa AL 35487 USA. Occupational Health Services Harry S. Truman Memorial Veterans' Hospital Columbia MO 65211 USA. Center for the Human-Animal Bond College of Veterinary MedicinePurdue University West Lafayette IN 47907 USA. School of Health Professions University of Missouri Columbia MO 65211 USA. TREE House of Greater St. louis Wentzville MO 63385 USA. School of Nursing and Health Studies University of Missouri-Kansas CityKansas City MO 64108 USA. Cedar Creek Therapeutic Riding Center Columbia MO 65201 USA. College of Education School and Counseling Psychology University of Missouri Columbia MO 65211USA. Ride-On St. louis Kimmswick MO 63053 USA.

Background:large numbers of post-deployment *** are diagnosed with post-traumatic stress disorder(PTSD)and/or traumatic brain injury(TBI),leading to an urgent need for effective interventions to reduce symptoms and increase veterans’*** includes anxiety,flashbacks,and emotional *** symptoms increase health care costs for stress-related illnesses and can make veterans’civilian life ***:We used a randomized wait-list controlled design with repeated measures of *** veterans to address our specific aim to test the efficacy of a 6-week therapeutic horseback riding(THR)program for decreasing PTSD symptoms and increasing coping self-efficacy,emotion regulation,social and emotional *** participants were recruited and 29 enrolled in the randomized *** were randomly assigned to either the horse riding group(n=15)or a wait-list control group(n=14).The wait-list control group experienced a 6-week waiting period,while the horse riding group began *** wait-list control group began riding after 6 weeks of participating in the control *** and health history information was obtained from all the *** symptoms were measured using the standardized PTSD Checklist-Military Version(PCl-M).The PCl-M as well as other instruments including,The Coping Self Efficacy Scale(CSES),The Difficulties in Emotion Regulation Scale(DERS)and The Social and Emotional loneliness Scale for Adults-short version(SElSA)were used to access different aspects of individual well-being and the PTSD ***:Participants had a statistically significant decrease in PTSD scores after 3 weeks of THR(P≤0.01)as well as a statistically and clinically significant decrease after 6 weeks of THR(P≤0.01).logistic regression showed that participants had a 66.7%likelihood of having lower PTSD scores at 3 weeks and 87.5%likelihood at 6 *** the generalized linear model(GlM),our ANOVA findings for the coping self

关键词： Animal-assisted intervention Coping self-efficacy Emotion regulation Military veterans Post-traumatic stress disorder Social engagement Therapeutic horseback riding Traumatic brain injury

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Are there sex-based disparities in cataract surgery?

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International Journal of Ophthalmology(English edition) 2024年第1期17卷 137-143页

作者： Matthew D.Geiger Anne M.lynch Alan G.Palestine Nathan C.Grove karen l.Christopher Richard S.Davidson Michael J.Taravella Naresh Mandava Jennifer l.Patnaik Department of Ophthalmology University of Colorado School of MedicineAuroraCO 80045USA

AIM:To investigate sex-based differences in the occurrence of intra-operative and post-operative complications and associated visual outcomes following cataract ***:This was a retrospective study of patients who had phacoemulsification cataract surgery at the University of Colorado School of *** collected included the patient’s health history,ocular comorbidities,operative and post-operative complications,and the post-operative best corrected visual acuity(BCVA).The data were analyzed using univariate and multivariable logistic regression with generalized estimating equations to account for the correlation of some patients having two eyes included in the ***:A total of 11977 eyes from 7253 patients were included in the *** comorbidities differed by sex,with males having significantly higher percentages of traumatic cataracts(males 0.7%vs females 0.1%),prior ocular surgery(6.7%vs 5.5%),and mature cataracts(2.8%vs 1.9%).Conversely,females had significantly higher rates of pseudoexfoliation(2.0%vs 3.2%).In unadjusted analysis,males had higher rates of posterior capsular rupture(0.8%vs 0.4%)and vitreous loss(1.0%vs 0.6%),but this difference was not significant after adjustment for *** had a significantly increased risk of post-operative retinal detachment,but in multivariable analysis this was no longer *** were significantly less likely to undergo post-operative neodymium-doped yttrium aluminum garnet(Nd:YAG)laser capsulotomy for posterior capsule opacification(OR=0.8,95%CI=0.7-0.9,P=0.0005).The BCVA was slightly worse for males pre-operatively;but post-operatively,both sexes exhibited similar visual acuity of Snellen equivalent 20/***:The study finds that in a cohort of patients presenting for cataract surgery,sex differences exist in pre-operative comorbidities and surgical characteristics that contribute to higher rates of some complications for ***,observed surgical complicatio

关键词： cataract surgery sex-based disparity phacoemulsification outcomes

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Suitable conditions for natural regeneration in variable retention harvesting of southern Patagonian Nothofagus pumilio forests

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Ecological Processes 2019年第1期8卷 240-251页

作者： Mónica D.R.Toro Manríquez Juan M.Cellini María V.lencinas Pablo l.Peri karen A.Peña Rojas Guillermo J.Martínez Pastur Centro Austral de Investigaciones Científicas(CADIC) Consejo Nacional de Investigaciones Científicas y Técnicas(CONICET)Houssay 200(9410)UshuaiaTierra del FuegoArgentina laboratorio de Investigaciones en Maderas(lIMAD) Universidad Nacional de la Plata(UNLP)Diagonal 113 n°469(1904)La PlataBuenos AiresArgentina Instituto Nacional de Tecnología Agropecuaria(INTA) Universidad Nacional de la Patagonia Austral(UNPA)Consejo Nacional de Investigaciones Científicas y Técnicas(CONICET)cc 332(9400)Río GallegosSanta CruzArgentina Departamento de Silvicultura y Conservación de la Naturaleza Facultad de Ciencias Forestales y de Conservación de la NaturalezaUniversidad de Chilecc 9206SantiagoChile.

Background:Variable retention(aggregated and dispersed retention)harvesting proposed for Nothofagus pumilio was designed for timber purposes and biodiversity *** by opening canopy generates different microenvironments and creates contrasting conditions for seedling establishment,growth,and eco-physiology performance due to synergies(positives or negatives)with biotic and abiotic *** study evaluated the regeneration in different microenvironment conditions within managed stands during 5 years after *** forest structure after harvesting and different microenvironments were characterized in managed stands,where 105 regeneration plots were measured(3 stands×7 microenvironments×5 replicas).We characterized the seedling bank,as well as growth and ecophysiology performance of the *** and multivariate analyses were conducted for the ***:Microenvironments offered different environmental conditions for natural regeneration(soil moisture and light availability).Seedling under debris and dicot plants showed better eco-physiological performance,establishment,and growth than plants growing under monocots or located in the dispersed retention without the protection of other understory *** most unfavorable microenvironment conditions were high canopy cover of remnant trees(inside the aggregates or close to trees in the dispersed retention)and heavily impacted areas(skidder extraction roads).Conclusions:Favorable microenvironments in the harvested areas will improve the natural recruitment,growth,and eco-physiology performance of the natural regeneration after *** is necessary to develop new silvicultural practices that decrease the unfavorable microenvironments(e.g.,road density or excessive woody accumulation),to assure the success of the proposed silvicultural method.

关键词： Aggregated retention Dispersed retention Microenvironments Environmental variables Biometric values Biomass allocation Eco-physiology

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Phantom study of the impact of adaptive statistical iterative reconstruction (ASiR<sup>TM</sup>) on image quality for paediatric computed tomography

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Journal of Biomedical Science and Engineering 2012年第12期5卷 793-806页

作者： Angjelina Protik karen Thomas Paul Babyn Nancy l. Ford Department of Medical Imaging University of Saskatchewan Saskatoon Canada Department of Medical Imaging University of Toronto Toronto Canada Department of Oral Biological and Medical Sciences University of British Columbia Vancouver Canada Department of Physics Ryerson University Toronto Canada

Quantitative analysis of image quality will be helpful for designing ASiRTM-enhanced paediatric CT protocols, balancing image quality and radiation dose. Catphan600 phantom studies were performed on a GE Discovery HD750 64-slice CT scanner. Images were reconstructed with 0% - 100% ASiRTM (tube current 150 mA, variable kVp 80 - 140) in order to determine the optimal ASiRTM-Filtered Back Projection (FBP) blend. Images reconstructed with a 50% ASiRTM-50% FBP blend were compared to FBP images (0% ASiRTM) over a wide range of kVp (80 - 140) and mA (10 - 400) values. Measurements of image noise, CT number accuracy and uniformity, spatial and contrast resolution, and low contrast detectability were performed on axial and reformatted coronal images. Improvements in CNR, low contrast detectability and radial uniformity were observed in ASiRTM images compared to FBP images. 50% ASiRTM was associated with a 26% - 30% reduction in image noise. Changes in noise texture were observed at higher % ASiRTM blends with impact on visualisation of low and high contrast objects. A small decrease in limiting spatial resolution was detected with addition of ASiRTM, more appreciable at very low tube currents. The preferred blend for paediatric body protocols in our study, as determined by the image quality parameters investigated, was 50% ASiRTM when used with tube currents greater than 50 mA.

关键词： Image Analysis CT Optimization ASiRTM Paediatric Imaging

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不同脱毒方法对玉米秸秆水解液酒精发酵的影响

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化工进展 2011年第4期30卷 739-742页

作者：张强 Anders Thygesen Anne Belinda thomsen 长春理工大学生命科学技术学院吉林长春130022 Biosystems Division Ris DTUTechnical University of Denmark

利用湿热预处理(195℃,15 min)后的玉米秸秆水解液,考察了3种不同脱毒方法(中和法、饱和生石灰法和Na2SO3法)对水解液中的抑制剂的去除效果,研究了树干毕赤酵母(Pichia stipitis 58376)对脱毒后的水解液酒精发酵情况。结果表明:玉米秸... 详细信息

利用湿热预处理(195℃,15 min)后的玉米秸秆水解液,考察了3种不同脱毒方法(中和法、饱和生石灰法和Na2SO3法)对水解液中的抑制剂的去除效果,研究了树干毕赤酵母(Pichia stipitis 58376)对脱毒后的水解液酒精发酵情况。结果表明:玉米秸秆水解液经过3种方法脱毒处理后,醛类抑制剂(糠醛和5-羟甲基糠醛)平均减少41%,总酚类最高去除28.4%,酒精得率都得到明显提高。最佳的脱毒方法是饱和生石灰法,理论酒精得率达到69.31%,对应的酒精浓度和生产效率分别为12.2 g/l和0.056 g/(l·h)。饱和生石灰法是一种有效实用的脱毒方法。

关键词：玉米秸秆湿热预处理脱毒树干毕赤酵母

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Neuropathology of JC virus infection in progressive multifocal leukoencephalopathy in remission

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World Journal of Virology 2016年第1期5卷 31-37页

作者： karen S SantaCruz Gulmohor Roy James Spigel Elaine l Bearer Department of Pathology University of New MexicoUniversity of New Mexico Health Sciences Center Department of Neurology University of California Department of Pathology Presbyterian Hospital

AIM: To investigate the neuropathology of the brain in a rare case of remission following diagnosis of progressive multifocal leukoencephalopathy(PMl).METHODS: Consent from the family for an autopsy was obtained, clinical records and radiograms were retrieved. A complete autopsy was performed, with brain examination after fixation and coronal sectioning at 1 cm intervals. Fourteen regions were collected for paraffin embedding and staining for microscopic analysis. Histologic sections were stained with luxol blue, hematoxylin/eosin, and immunostained for myelin basic protein, neurofilament, SV40 T antigen and p53. The biopsy material was also retrieved and sections were stained with hematoxylin/eosin and immunostained for SV40 and p53. Sections were examined by American Board of Pathology certified pathologists and images captured ***: Review of the clinical records was notable for a history of ulcerative colitis resulting in total colectomy in 1977 and a liver transplant in 1998 followed by immune-suppressive therapy. Neurological symptoms presented immediately, therefore a biopsy was obtained which was diagnosed as PMl. Immunotherapy was adjusted and clinical improvement was noted. No subsequent progression was reported. Review of the biopsy demonstrated atypical astrocytes and enlarged hyperchromatic oligodendroglial cells consistent with JC virus infection. Strong SV40 and p53 staining was found in glial cells and regions of dense macrophage infiltration were present. On gross examination of the post-mortem brain, a lesion in the same site as the original biopsy in the cerebellum was identified but no other lesions in the brain were found. Microscopic analysis of this cerebellar lesion revealed a loss of myelin and axons, and evidence of axonal damage. This single burned-out lesion was equivocally positive for SV40 antigen with little p53 staining. Examination of thirteen other brain regions found no other occult ***: Our study reveals

关键词： Progressive multifocal leukoencephalopathy Progressive multifocal leukoencephalopathy JC virus Remission Demyelinating

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Management of critically ill patients with type 2 diabetes:The need for personalised therapy

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World Journal of Diabetes 2015年第5期6卷 693-706页

作者： Palash Kar karen l Jones Michael Horowitz Adam M Deane Discipline of Acute Care Medicine Level 5Eleanor Harrald BuildingUniversity of Adelaide Intensive Care Unit Level 4Emergency Services BuildingRoyal Adelaide Hospital Centre for Research Excellence University of Adelaide Discipline of Medicine Level 6Eleanor Harrald BuildingUniversity of Adelaide

Critical illness in patients with pre-existing diabetes frequently causes deterioration in glycaemic *** the prevalence of diabetes in patients admitted to hospital and intensive care units,the ideal management of hyperglycaemia in these groups is *** are data that suggest that acute hyperglycaemia in critically ill patients without diabetes is associated with increased mortality and *** insulin to keep blood glucose concentrations l/l is accepted as standard of care in this ***,preliminary data have recently been reported that suggest that chronic hyperglycaemia may result in conditioning,which protects these patients against damage mediated by acute ***,acute glucose-lowering to l/l in patients with diabetes with inadequate glycaemic control prior to their critical illness appears to have the capacity to cause *** review focuses on glycaemic control in critically ill patients with type 2 diabetes,the potential for harm from glucose-lowering and the rationale for personalised therapy.

关键词： Diabetes Critically ill Intensive care Management Personalised therapy

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Does Resampled Image Data Offer Quantitative Image Quality Benefit for Pediatric CT?

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Journal of Biomedical Science and Engineering 2014年第6期7卷 343-350页

作者： Nancy l. Ford Angjelina Protik Paul Babyn karen Thomas Ryerson University Toronto Canada The Hospital for Sick Children and University of Toronto Toronto Canada University of British Columbia Vancouver Canada University of Saskatchewan Saskatoon Canada

Acquiring CT images with thin slices can improve resolution and detectability, but cause an increase in the image noise. To compensate for the additional image noise, the kVp or mA can be increased, which carries a dose penalty to the patient. We investigate the image quality achieved in MPR images reformatted from different slice thicknesses 0.625 mm and 5 mm, to determine if a thicker slice could be resampled to smaller thickness with minimal loss of image information. Catphan?600 phantom was imaged using selected kVp/mA settings (80 kVp/250 mA, 100 kVp/ 150 mA and 120 kVp/200 mA) to generate slices with thicknesses of 0.625 mm and 5 mm using a GE Discovery HD750 64-slice CT scanner to investigate the impact of the acquisition slice thickness on the overall image quality in MPRs. Measurements of image noise, uniformity, contrast-to-noise ratio (CNR), low contrast detectability and limiting spatial resolution were performed on axial and coronal multiplanar reformatted images (MPRs). Increased noise, reduced contrast-to-noise ratio, and improved limiting spatial resolution and low contrast detection were observed in 2 mm coronal MPRs generated with 0.625 mm thin slices when compared to the MPRs from 5 mm thick slices. If the 2 mm coronal MPRs acquired with 5 mm slices are resampled to 0.6 mm slice thickness, the reductions in limiting resolution and low contrast detection are compensated, although with reduced uniformity and increased image noise. Thick slice image acquisitions yield better CNR and less noise in the images, whereas thin slices exhibited improved spatial resolution and low contrast detectability. Retrospectively resampling into thinner slices before obtaining the coronal MPRs provided a balance between image smoothness and identifying fine image detail. Which approach provides the optimal image quality may also depend on the imaging task, size and composition of the features of interest, and radiologist preference.

关键词： Paediatric CT Image Quality Multiplanar Reformats (MPR) Collimation

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Handbook of stroke prevention in clinical practice 1

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丛书名： Current Clinical Neurology

2004年

作者： karen l. Furie and Peter J. Kelly.

ISBN: (纸本)9781588291585

This concise survey of stroke and stroke prevention contains all the up-to-date resources that a physician needs everyday in the office to assess and treat patients at high risk of stroke. The authors isolate the individual areas where intervention can help reduce stroke risk, provide background data on the major risk factors (hypertension, lipids, diabetes, tobacco, and alcohol), and offer practical advice on lifestyle issues, such as diet, vitamin use, and exercise. Among the therapies fully discussed are lipid management, antithrombotic therapy, hormonal therapy, stenting, and angioplasty

关键词： Cerebrovascular Accident

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