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Role of CFTR mutation analysis in the diagnostic algorithm for cystic fibrosis

World Journal of Pediatrics 2017年第2期13卷 129-135页

作者： Michelle Ratkiewicz Matthew Pastore Karen Sharrock McCoy Rohan Thompson don hayes jr. Shahid Ijaz Sheikh Departments of Pediatrics the Ohio State University College of Medicine ColumbusOhioUSA Section of Pulmonary Medicine Nationwide Children's HospitalColumbusOhioUSA Departments of Pediatrics the Ohio State University College of Medicine ColumbusOhioUSA Section of Human and Molecular Genetics Nationwide Children's HospitalColumbusOhioUSA Departments of Pediatrics the Ohio State University College of Medicine ColumbusOhioUSA Internal Medicine the Ohio State University College of Medicine ColumbusOhioUSA Section of Pulmonary Medicine Nationwide Children's HospitalColumbusOhioUSA

Background:The cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation identification is being used with increased frequency to aid in the diagnosis of cystic fibrosis (CF) in those suspected with *** of this study was to identify diagnostic outcomes when CFTR mutational analysis was used in CF *** mutational analysis results were also compared with sweat chloride ***:This study was done on all patients at our institution who had CFTR mutation analysis over a sevenyear period since August ***:A total of 315 patients underwent CFTR mutational ***-one (16.2%) patients had two mutations *** them 32 had positive sweat chloride levels (≥60 mmol/L),while seven had borderline sweat chloride levels (40-59 mmol/L).An additional 70 patients (22.3%) had only one mutation *** them eight had positive sweat chloride levels,and 17 had borderline sweat chloride ***-five patients (17.5%) without CFTR mutations had either borderline (n=45) or positive (n=10) sweat chloride *** patients with a CF phenotype had negative CFTR analysis but elevated sweat chloride *** eighty-three patients (26.4%) CFTR mutational analysis was done without corresponding sweat chloride ***:Although CFTR mutation analysis has improved the diagnostic capability for CF,its use either as the first step or the only test to diagnose CFTR dysfunction should be discouraged and CF diagnostic guidelines need to be followed.

关键词： CFTR cystic fibrosis sweat chloride

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Distribution Control Centers in the US and Europe:Commonalities,Differences,and Lessons

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Journal of Modern Power Systems and Clean Energy 2022年第2期10卷 259-268页

作者： Subramanian Vadari Izudin Dzafic Dan'l Koch Ryan Murphy Daniel hayes jr. Tarik donlagic Modem Grid Solutions New YorkUSA University of Sarajevo Faculty of Electrical EngineeringSarajevoBosnia and Herzegovina R.Murphy are with Puget Sound Energy BellevueUSA Commonwealth Edison ChicagoUSA Siemens AG ErlanglenGermany

The distribution control center(DCC)has evolved from a sideshow in the traditional distribution service center to a major centerpiece of the utility moving into the decentralized ***,this is the place where much of the action is happening due to new forms of energy that are coining into the distribution *** creates the flexibility of operation and in-creased complexity due to the need for increased coordination between the transmission control center and ***,the US and European utilities have adapted to this change in very different ***,we describe the research works done in a DCC and their evolutions from the perspectives of major US utilities,and those enhanced by the European perspective focusing on the coordination of distribution system operator and transmission system operator(DSO-TSO).We pres-ent the insights into the systems used in these control centers and the role of vendors in their *** this paper,we present the perspectives of challenges,operational capabilities,and the involvement of various parties who will be re-sponsible to make the transition *** differences are pointed out on how distribution operations are conducted between the US and Europe.

关键词： Distribution control center(DCC) power system operation distributed generation asset flexibility volt-var optimization and control.

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Racial differences in pet ownership in families of children with asthma

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世界儿科杂志:英文版 2016年第3期12卷 343-346页

作者： Shahid I Sheikh Judy Pitts Nancy A Ryan-Wenger Karen S McCoy don hayes Departments of Pediatrics The Ohio State University College of MedicineColumbusOhioUSA Internal Medicine The Ohio State University College of MedicineColumbusOhioUSA Section of Pulmonary Medicine Nationwide Children's HospitalColumbusOhioUSA Department of Nursing Research Nationwide Children's HospitalColumbusOhioUSA Section of Allergy/Immunology Nationwide Children's HospitalColumbusOhioUSA

Background:Exposure to household domestic animals such as cats and dogs in early life may have some role in pathogenesis of *** differences exist in the prevalence of *** hypothesized that there may also be racial differences in pet ownership in families with ***:A cross sectional study was conducted from June 2011 to December 2014 on 823 of 850(97%)families of children with asthma for pet *** among racial groups were done using chi square analysis and one-way analysis of ***:The mean age of the cohort was 6.9±4.4 years.A total of 540(65.62%)patients were Caucasian,195(23.7%)African American,42(5.1%)hispanics,and 26(3.2%)biracial with one Caucasian *** in the home were reported by 470(58.5%)*** cantly fewer African American and hispanic families had pets in the home(26.9% and 44.7%)than biracial and Caucasian families(72% and 69.9%,P<0.001).Likewise,significantly more biracial and Caucasian families were noted to have dogs(52% and 54.4%)or cats(25.4%and 40%)or both cats and dogs(28% and 18%)than African Americans families(20.3%,P<0.001;7.1%,P<0.001)and(4.6%,P<0.001),***:Among families with asthmatic children,pet ownership is significantly more likely in Caucasian families compared with African-American and Hispanic families,thus there is a racial diversity in pet ownership among families of children with asthma.

关键词： asthma cat children dog ethnicity pets

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Impact of transjugular intrahepatic porto-systemic shunt on post liver transplantation outcomes: Study based on the United Network for Organ Sharing database

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World Journal of Hepatology 2017年第2期9卷 99-105页

作者： Khalid Mumtaz Sherif Metwally Rohan M Modi Nishi Patel Dmitry Tumin Anthony J Michaels James Hanje Ashraf El-Hinnawi don hayes jr.Sylvester M Black Wexner Medical Center Gastroenterology Hepatology and Nutrition Division the Ohio State University Department of Internal Medicine the Ohio State University Department of Pediatrics the Ohio State University Department of Surgery the Ohio State University Section of Pulmonary Medicine the Ohio State University

AIMTo determine the impact of transjugular intrahepatic porto-systemic shunt (TIPS) on post liver transplantation (LT) outcomes. METHODSUtilizing the United Network for Organ Sharing (UNOS) database, we compared patients who underwent LT from 2002 to 2013 who had underwent TIPS to those without TIPS for the management of ascites while on the LT waitlist. The impact of TIPS on 30-d mortality, length of stay (LOS), and need for re-LT were studied. For evaluation of mean differences between baseline characteristics for patients with and without TIPS, we used unpaired t-tests for continuous measures and χ2 tests for categorical measures. We estimated the impact of TIPS on each of the outcome measures. Multivariate analyses were conducted on the study population to explore the effect of TIPS on 30-d mortality post-LT, need for re-LT and LOS. All covariates were included in logistic regression analysis. RESULTSWe included adult patients (age ≥ 18 years) who underwent LT from May 2002 to September 2013. Only those undergoing TIPS after listing and before liver transplant were included in the TIPS group. We excluded patients with variceal bleeding within two weeks of listing for LT and those listed for acute liver failure or hepatocellular carcinoma. Of 114770 LT in the UNOS database, 32783 (28.5%) met inclusion criteria. Of these 1366 (4.2%) had TIPS between the time of listing and LT. We found that TIPS increased the days on waitlist (408 ± 553 d) as compared to those without TIPS (183 ± 330 d), P P P = 0.001) by TIPS to LOS. CONCLUSIONTIPS did increase time on waitlist for LT. More importantly, TIPS was not associated with 30-d mortality and re-LT, but it did lengthen hospital LOS after transplantation.

关键词： Transjugular intrahepatic porto-systemic shunt Shunt Liver Transplantation Ascites Model for end-stage liver disease Mortality Transjugular

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Animal models of ex vivo lung perfusion as a platform for transplantation research

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World Journal of Experimental Medicine 2014年第2期4卷 7-15页

作者： Kevin Nelson Christopher Bobba Samir Ghadiali don hayes jr.Sylvester M Black Bryan A Whitson Department Biomedical Engineering The Ohio State UniversityColumbusOH 43210United States Department of Internal Medicine Division of PulmonaryAllergyand Critical Care and Sleep MedicineThe Ohio State University Wexner Medical Center The Ohio State University Department of Pediatrics Nationwide Children’s HospitalColumbusOH 43210United States Department of Surgery Division of TransplantationColumbusOH 43210United States Department of Surgery Division of Cardiac SurgeryThe Collaboration for Organ PerfusionProtectionEngineering and Regeneration LaboratoryThe Ohio State University Wexner Medical CenterColumbusOH 43210United States

Ex vivo lung perfusion(EVLP) is a powerful experimental model for isolated lung research. EVLP allows for the lungs to be manipulated and characterized in an external environment so that the effect of specific ventilation/perfusion variables can be studied independent of other confounding physiologic contributions. At the same time,EVLP allows for normal organ level function and real-time monitoring of pulmonary physiology and mechanics. As a result,this technique provides uniqueadvantages over in vivo and in vitro models. Small and large animal models of EVLP have been developed and each of these models has their strengths and weaknesses. In this manuscript,we provide insight into the relative strengths of each model and describe how the development of advanced EVLP protocols is leading to a novel experimental platform that can be used to answer critical questions in pulmonary physiology and transplant medicine.

关键词： Ex vivo lung perfusion Transplantation Rat Porcine Small animal Large animal Model Ex vivo lung perfusion

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Improved speciation of dissolved organic nitrogen in natural waters: amide hydrolysis with fluorescence derivatization

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Journal of Environmental Sciences 2008年第10期20卷 1273-1280页

作者： Ryan L.Fimmen Tamara D.Trouts Daniel D.Richter jr. Dharni Vasudevan School of Earth Sciences The Ohio State University 125 S.Oval MallColumbus OH 43210 USA.Nicholas School of the Environment and Earth Sciences Duke University Durham NC 27708 USA School of Earth Sciences The Ohio State University 125 S.Oval MallColumbus OH 43210 USA Nicholas School of the Environment and Earth Sciences Duke UniversityDurham NC 27708 USA. Nicholas School of the Environment and Earth Sciences Duke UniversityDurham NC 27708 USA.Department of Chemistry Bowdoin CollegeBrunswick ME 04011 USA

The objective of this study was to improve primary-amine nitrogen (1°-N) quantification in dissolved organic matter (DOM) originating from natural waters where inorganic forms of N, which may cause analytical interference, are commonly encountered. Efforts were targeted at elucidating organic-N structural criteria influencing the response of organic amines to known colorimetric and fluorescent reagents and exploring the use of divalent metal-assisted amide hydrolysis in combination with fluorescence analyse...

关键词： dissolved organic matter/nitrogen (DOM/don) o-phthaldialdehyde fluorescamine ninhydrin amino acids amide hydrolysis peptides

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Effect of transplant center volume on post-transplant survival in patients listed for simultaneous liver and kidney transplantation

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World Journal of Hepatology 2018年第1期10卷 134-141页

作者： Rohan M Modi Dmitry Tumin Andrew J Kruger Eliza W Beal don hayes jr.James Hanje Anthony J Michaels Kenneth Washburn Lanla F Conteh Sylvester M Black Khalid Mumtaz Department of Internal Medicine Ohio State University Wexner Medical CenterColumbusOH 43210United States Department of Anesthesiology and Pain Medicine Nationwide Children’s HospitalColumbusOH 43205United States Department of General Surgery Division of TransplantationOhio State University Wexner Medical CenterColumbusOH 43210United States Comprehensive Transplant Center Ohio State University Wexner Medical CenterColumbusOH 43210United States Section of Pulmonary Medicine Nationwide Children’s HospitalColumbusOH 43205United States Department of Internal Medicine Division of GastroenterologyHepatology and NutritionOhio State University Wexner Medical CenterColumbusOH 43210United States

AIM To examine the effect of center size on survival differences between simultaneous liver kidney transplantation(SLKT) and liver transplantation alone(LTA) in SLKT-listed *** The United Network of Organ Sharing database was queried for patients ≥ 18 years of age listed for SLKT between February 2002 and December 2015. Posttransplant survival was evaluated using stratified Cox regression with interaction between transplant type(LTA vs SLKT) and center *** During the study period, 393 of 4580 patients(9%) listed for SLKT underwent a LTA. Overall mortality was higher among LTA recipients(180/393, 46%) than SLKT recipients(1107/4187, 26%). The Cox model predicted a significant survival disadvantage for patients receiving LTA vs SLKT [hazard ratio, hazard ratio(HR) = 2.85; 95%CI: 2.21, 3.66; P < 0.001] in centers performing 30 SLKT over the study period. This disadvantage was modestly attenuated as center SLKT volume increased, with a 3% reduction(HR = 0.97; 95%CI: 0.95, 0.99; P = 0.010) for every 10 SLKs *** In conclusion, LTA is associated with increased mortality among patients listed for SLKT. This difference is modestly attenuated at more experienced centers and may explain inconsistencies between smaller-center and larger registry-wide studies comparing SLKT and LTA outcomes.

关键词： Kidney transplantation Center volume Mortality Liver transplantation United network for organ sharing

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Organizational Behavior don Hellriegel, John W. Slocum, jr.

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2007年

作者： don Hellriegel John W. Slocum jr.

来源：畅想之星图书光盘版（南... 评论

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Endoscopic ultrasound-guided portal pressure gradient identifies patients with previously undiagnosed clinically significant portal hypertension

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Portal Hypertension & Cirrhosis 2024年第2期3卷 67-74页

作者： Jerome C.Edelson Scott F.D.Edelson John G.Quiles Cyrus V.Edelson Eric M.Montminy Christian L.Horn John P.Magulick don C.Rockey Department of Gastroenterology and Hepatology Brooke Army Medical CenterFort Sam HoustonTexasUSA Department of Medicine Uniformed Services University of the Health SciencesBethesdaMarylandUSA Department of Medicine Brooke Army Medical CenterFort Sam HoustonTexasUSA John H.Stroger jr.Hospital of Cook County ChicagoIllinoisUSA Digestive Disease Research Center Medical University of South CarolinaCharlestonSouth CarolinaUSA

Aims:Portal hypertension(PH)is a complication of cirrhosis that leads to hepatic *** the portal pressure gradient(PPG)provides valuable information for disease assessment,staging,and *** this study,we aimed to report the utilization of endoscopic ultrasound(EUS)-guided PPG(EUS-PPG)measurements in a real-world ***:This retrospective analysis included patients at a tertiary care center who underwent EUS-PPG between February 2021 and May *** most common indication was to establish or exclude the diagnosis of cirrhosis,followed by an assessment of surgical risk in the setting of suspected *** demographic and clinical data were collected,and statistical analysis was performed using the Student's t ***:Eighteen patients underwent *** success was achieved in 17 of the 18 *** complications were *** mean scores of Child-Pugh,Model for End-Stage Liver Disease-Sodium,and Fibrosis-4 scores were 5.1±0.5,9.0±3.0,and 3.7±4.5,*** the 18 patients,two presented with esophageal varices and six with portal hypertensive *** mean PPG was 5.8±4.5 mmHg,and five patients exhibited clinically significant PH(CSPH).Of the 18 patients,15 underwent concurrent EUS-liver biopsy,which was 100%successful and provided diagnostic histology for all *** PPG data led to changes in the clinical management of 17 ***:EUS-PPG is safe and technically *** Child-Pugh score did not correlate well with the presence of CSPH;however,PPG measurements resulted in changes in the management of almost all *** studies correlating EUS-PPG with other assessments of liver diseases are required.

关键词： EUS portal hypertension portal pressure gradient

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Robotic pendant drop:containerless liquid for μs-resolved,AI-executable XPCS

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Light(Science & Applications) 2023年第9期12卷 1857-1866页

作者： Doga Yamac Ozgulbas don Jensen jr. Rory Butler Rafael Vescovi Ian T.Foster Michael Irvin Yasukazu Nakaye Miaoqi Chu Eric M.Dufresne Soenke Seifert Gyorgy Babnigg Arvind Ramanathan Qingteng Zhang Data Science and Learning Division Argonne National LaboratoryLemontIL 60439USA X-ray Science Division Argonne National LaboratoryLemontIL 60439USA Departement of Computer Science University of Chicago5801 S Ellis AveChicagoIL 60637USA XRD Design and Engineering Department Rigaku Corporation 3-9-12 Matsubara-choAkishima-shiTokyo 196-8666Japan Bioscience Division Argonne National LaboratoryLemontIL 60439USA

The dynamics and structure of mixed phases in a complex fluid can significantly impact its material properties,such as ***-angle X-ray Photon Correlation Spectroscopy(SA-XPCS)can probe the spontaneous spatial fluctuations of the mixed phases under various in situ environments over wide spatiotemporal ranges(10−6–103 s/10−10–10−6 m).Tailored material design,however,requires searching through a massive number of sample compositions and experimental parameters,which is beyond the bandwidth of the current coherent X-ray *** 3.7-μs-resolved XPCS synchronized with the clock frequency at the Advanced Photon Source,we demonstrated the consistency between the Brownian dynamics of~100 nm diameter colloidal silica nanoparticles measured from an enclosed pendant drop and a sealed *** electronic pipette can also be mounted on a robotic arm to access different stock solutions and create complex fluids with highly-repeatable and precisely controlled composition *** closed-loop,AI-executable protocol is applicable to light scattering techniques regardless of the light wavelength and optical coherence,and is a first step towards high-throughput,autonomous material discovery.

关键词： resolved sealed mounted

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