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Article ; Online: Decentralized clinical trials in the trial innovation network: Value, strategies, and lessons learned.

Hanley, Daniel F / Bernard, Gordon R / Wilkins, Consuelo H / Selker, Harry P / Dwyer, Jamie P / Dean, J Michael / Benjamin, Daniel Kelly / Dunsmore, Sarah E / Waddy, Salina P / Wiley, Kenneth L / Palm, Marisha E / Mould, W Andrew / Ford, Daniel F / Burr, Jeri S / Huvane, Jacqueline / Lane, Karen / Poole, Lori / Edwards, Terri L / Kennedy, Nan /

Boone, Leslie R / Bell, Jasmine / Serdoz, Emily / Byrne, Loretta M / Harris, Paul A

Journal of clinical and translational science

2023 Volume 7, Issue 1, Page(s) e170

Abstract: New technologies and disruptions related to Coronavirus disease-2019 have led to expansion of decentralized approaches to clinical trials. Remote tools and methods hold promise for increasing trial efficiency and reducing burdens and barriers by ... ...

Abstract	New technologies and disruptions related to Coronavirus disease-2019 have led to expansion of decentralized approaches to clinical trials. Remote tools and methods hold promise for increasing trial efficiency and reducing burdens and barriers by facilitating participation outside of traditional clinical settings and taking studies directly to participants. The Trial Innovation Network, established in 2016 by the National Center for Advancing Clinical and Translational Science to address critical roadblocks in clinical research and accelerate the translational research process, has consulted on over 400 research study proposals to date. Its recommendations for decentralized approaches have included eConsent, participant-informed study design, remote intervention, study task reminders, social media recruitment, and return of results for participants. Some clinical trial elements have worked well when decentralized, while others, including remote recruitment and patient monitoring, need further refinement and assessment to determine their value. Partially decentralized, or "hybrid" trials, offer a first step to optimizing remote methods. Decentralized processes demonstrate potential to improve urban-rural diversity, but their impact on inclusion of racially and ethnically marginalized populations requires further study. To optimize inclusive participation in decentralized clinical trials, efforts must be made to build trust among marginalized communities, and to ensure access to remote technology.
Language	English
Publishing date	2023-07-25
Publishing country	England
Document type	Journal Article
ISSN	2059-8661
ISSN (online)	2059-8661
DOI	10.1017/cts.2023.597
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Article ; Online: Leveraging the Expertise of the CTSA Program to Increase the Impact and Efficiency of Clinical Trials.

Harris, Paul A / Dunsmore, Sarah E / Atkinson, Jane C / Benjamin, Daniel Kelly / Bernard, Gordon R / Dean, J Michael / Dwyer, Jamie P / Ford, Daniel F / Selker, Harry P / Waddy, Salina P / Wiley, Kenneth L / Wilkins, Consuelo H / Cook, Sarah K / Burr, Jeri S / Edwards, Terri L / Huvane, Jacqueline / Kennedy, Nan / Lane, Karen / Majkowski, Ryan /

Nelson, Sarah / Palm, Marisha E / Stroud, Mary / Thompson, Dixie D / Busacca, Linda / Elkind, Mitchell S V / Kimberly, Robert P / Reilly, Muredach P / Hanley, Daniel F

JAMA network open

2023 Volume 6, Issue 10, Page(s) e2336470

Abstract: Importance: Multicenter clinical trials play a critical role in the translational processes that enable new treatments to reach all people and improve public health. However, conducting multicenter randomized clinical trials (mRCT) presents challenges. ... ...

Abstract	Importance: Multicenter clinical trials play a critical role in the translational processes that enable new treatments to reach all people and improve public health. However, conducting multicenter randomized clinical trials (mRCT) presents challenges. The Trial Innovation Network (TIN), established in 2016 to partner with the Clinical and Translational Science Award (CTSA) Consortium of academic medical institutions in the implementation of mRCTs, consists of 3 Trial Innovation Centers (TICs) and 1 Recruitment Innovation Center (RIC). This unique partnership has aimed to address critical roadblocks that impede the design and conduct of mRCTs, in expectation of accelerating the translation of novel interventions to clinical practice. The TIN's challenges and achievements are described in this article, along with examples of innovative resources and processes that may serve as useful models for other clinical trial networks providing operational and recruitment support. Observations: The TIN has successfully integrated more than 60 CTSA institution program hubs into a functional network for mRCT implementation and optimization. A unique support system for investigators has been created that includes the development and deployment of novel tools, operational and recruitment services, consultation models, and rapid communication pathways designed to reduce delays in trial start-up, enhance recruitment, improve engagement of diverse research participants and communities, and streamline processes that improve the quality, efficiency, and conduct of mRCTs. These resources and processes span the clinical trial spectrum and enable the TICs and RIC to serve as coordinating centers, data centers, and recruitment specialists to assist trials across the National Institutes of Health and other agencies. The TIN's impact has been demonstrated through its response to both historical operational challenges and emerging public health emergencies, including the national opioid public health crisis and the COVID-19 pandemic. Conclusions and relevance: The TIN has worked to reduce barriers to implementing mRCTs and to improve mRCT processes and operations by providing needed clinical trial infrastructure and resources to CTSA investigators. These resources have been instrumental in more quickly and efficiently translating research discoveries into beneficial patient treatments.
MeSH term(s)	United States ; Humans ; COVID-19 ; Pandemics ; Translational Science, Biomedical ; Awards and Prizes ; Communication
Language	English
Publishing date	2023-10-02
Publishing country	United States
Document type	Multicenter Study ; Journal Article ; Research Support, N.I.H., Extramural
ISSN	2574-3805
ISSN (online)	2574-3805
DOI	10.1001/jamanetworkopen.2023.36470
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Article: The endotracheal tube air leak test does not predict extubation outcome in critically ill pediatric patients.

Wratney, Angela T / Benjamin, Daniel Kelly / Slonim, Anthony D / He, James / Hamel, Donna S / Cheifetz, Ira M

Pediatric critical care medicine : a journal of the Society of Critical Care Medicine and the World Federation of Pediatric Intensive and Critical Care Societies

2008 Volume 9, Issue 5, Page(s) 490–496

Abstract: Objective: Endotracheal tube air leak pressures are used to predict postextubation upper airway compromise such as stridor, upper airway obstruction, or risk of reintubation. To determine whether the absence of an endotracheal tube air leak (air leak ... ...

Abstract	Objective: Endotracheal tube air leak pressures are used to predict postextubation upper airway compromise such as stridor, upper airway obstruction, or risk of reintubation. To determine whether the absence of an endotracheal tube air leak (air leak test >/=30 cm H2O) measured during the course of mechanical ventilation predicts extubation failure in infants and children. Design: Prospective, blinded cohort. Setting: Multidisciplinary pediatric intensive care unit of a university hospital. Patients: Patients younger than or equal to 18 yrs and intubated >/=24 hrs. Interventions: The pressure required to produce an audible endotracheal tube air leak was measured within 12 hrs of intubation and extubation. Unless prescribed by the medical care team, patients did not receive neuromuscular blocking agents during air leak test measurements. Measurements and main results: The need for reintubation (i.e., extubation failure) was recorded during the 24-hr postextubation period. Seventy-four patients were enrolled resulting in 59 observed extubation trials. The extubation failure rate was 15.3% (9 of 59). Seven patients were treated for postextubation stridor. Extubation failure was associated with a longer median length of ventilation, 177 vs. 78 hrs, p = 0.03. Extubation success was associated with the use of postextubation noninvasive ventilation (p = 0.04). The air leak was absent for the duration of mechanical ventilation (i.e., >/=30 cm H2O at intubation and extubation) in ten patients. Absence of the air leak did not predict extubation failure (negative predictive value 27%, 95% confidence interval 6-60). The air leak test was >/=30 cm H2O before extubation in 47% (28 of 59) of patients yet 23 patients extubated successfully (negative predictive value 18%). Conclusions: An endotracheal tube air leak pressure >/=30 cm H2O measured in the nonparalyzed patient before extubation or for the duration of mechanical ventilation was common and did not predict an increased risk for extubation failure. Pediatric patients who are clinically identified as candidates for an extubation trial but do not have an endotracheal tube air leak may successfully tolerate removal of the endotracheal tube.
MeSH term(s)	Air Pressure ; Child, Preschool ; Cohort Studies ; Critical Care ; Equipment Failure ; Female ; Forecasting ; Humans ; Infant ; Intensive Care Units, Pediatric ; Interdisciplinary Communication ; Intubation, Intratracheal/instrumentation ; Male ; Outcome Assessment, Health Care ; Prospective Studies
Language	English
Publishing date	2008-08-05
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	2052349-X
ISSN	1947-3893 ; 1529-7535
ISSN (online)	1947-3893
ISSN	1529-7535
DOI	10.1097/PCC.0b013e3181849901
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Article ; Online: Arrhythmias in patients receiving enzyme replacement therapy for infantile Pompe disease.

McDowell, Roddy / Li, Jennifer S / Benjamin, Daniel Kelly / Morgan, Claire / Becker, Alison / Kishnani, Priya S / Kanter, Ronald J

Genetics in medicine : official journal of the American College of Medical Genetics

2008 Volume 10, Issue 10, Page(s) 758–762

Abstract: Purpose: Enzyme replacement therapy in infants with Pompe disease prolongs survival, decreases cardiomegaly, and improves muscle function. Because ectopy has been previously described in these patients, we sought to determine the prevalence and types of ...

Abstract	Purpose: Enzyme replacement therapy in infants with Pompe disease prolongs survival, decreases cardiomegaly, and improves muscle function. Because ectopy has been previously described in these patients, we sought to determine the prevalence and types of arrhythmias. Methods: Thirty-eight children with infantile Pompe disease received enzyme replacement therapy in two open-label, multicenter, international, clinical trials. Data were reviewed on a retrospective basis. The corrected QT interval, ejection fraction, and indexed left ventricular mass were measured on a scheduled basis from electrocardiograms and echocardiograms. Arrhythmias were identified and characterized from electrocardiograms, ambulatory electrocardiograms, and point-of-care monitoring. Electrocardiogram and echocardiogram measurements were compared in children with and without arrhythmias. Results: Seven children (18%) experienced arrhythmias. The QT interval, ejection fraction, indexed left ventricular mass, and rate of reduction of indexed left ventricular mass were not statistically different in those seven versus the other 31 children. Two children with life-threatening arrhythmias had among the highest combined baseline maximum indexed left ventricular mass and QT interval. Their arrhythmias occurred during severe metabolic stress from noncardiac illness. Conclusions: There was a high incidence of arrhythmias in our cohort. The relationship of arrhythmias with enzyme replacement therapy, myocardial fibrosis, or simply longer survival is unknown. Therefore, further characterization of specific arrhythmia risk factors and continued vigilance regarding screening for arrhythmias in children receiving enzyme replacement therapy is warranted.
MeSH term(s)	Arrhythmias, Cardiac/diagnosis ; Arrhythmias, Cardiac/etiology ; Child, Preschool ; Electrocardiography ; Female ; Glycogen Storage Disease Type II/complications ; Glycogen Storage Disease Type II/drug therapy ; Glycogen Storage Disease Type II/physiopathology ; Humans ; Infant ; Male ; Recombinant Proteins/therapeutic use ; Risk Factors ; Treatment Outcome ; alpha-Glucosidases/therapeutic use
Chemical Substances	Recombinant Proteins ; GAA protein, human (EC 3.2.1.20) ; alpha-Glucosidases (EC 3.2.1.20)
Language	English
Publishing date	2008-09-23
Publishing country	United States
Document type	Clinical Trial ; Journal Article ; Multicenter Study ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1455352-1
ISSN	1530-0366 ; 1098-3600
ISSN (online)	1530-0366
ISSN	1098-3600
DOI	10.1097/GIM.0b013e318183722f
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Article: Infections diagnosed in the first year after pediatric stem cell transplantation.

Benjamin, Daniel Kelly / Miller, William C / Bayliff, Sherry / Martel, Lisa / Alexander, Kenneth A / Martin, Paul Langlie

The Pediatric infectious disease journal

2002 Volume 21, Issue 3, Page(s) 227–234

Abstract: Background: Cumulative incidence of infections in the first year posttransplantation in adult patients has been well-described. Such description is less than complete for pediatric stem cell transplantation (SCT) patients. Further among those patients ... ...

Abstract	Background: Cumulative incidence of infections in the first year posttransplantation in adult patients has been well-described. Such description is less than complete for pediatric stem cell transplantation (SCT) patients. Further among those patients who have been infected, analysis of risk factors for infection has not been well-described for a large cohort of pediatric SCT patients. Methods: We conducted a retrospective cohort study of infections in the first year after SCT at Duke University Medical Center. We recorded all infections in the first year after transplantation. We determined incidences for 6 categories of infection: gram-negative rods; gram-positive cocci; yeast species; Aspergillus sp.; adenovirus; and cytomegalovirus. We determined incidences based on type of transplant and days post transplantation. We also completed bivariable and multivariable analysis of risk factors [neutropenia, graft vs. host disease (GVHD) and GVHD treatment] for infection type among those children who were infected. Results: We evaluated 510 transplants in 485 children. There were 584 infections in the first year after transplantation. During the first 30 days posttransplantation, type of transplantation did not predict incidence of infection or type of infection. After 30 days children who received unrelated cord blood transplant and matched unrelated donor transplant were at much higher risk of infection than were patients who received autologous, matched sibling or haploidentical transplant (P < 0.001). Patients who received unrelated cord blood or matched unrelated donor transplantation were at higher risk of aspergillosis (P = 0.002), candidiasis (P = 0.005) and adenovirus (P < 0.0001) but not cytomegalovirus (P = 0.18). In analysis of risk factors among those infected, patients with aspergillosis were more likely to have severe GVHD: multivariable 1 year risk ratio, 7.5; 95% confidence interval, 3.0, 18.4. Neutropenia was more strongly associated with gram-negative rod infection than any other type of infection. Conclusions: The incidence of infection immediately after transplantation did not differ significantly by type of transplant in this pediatric population. Type of transplant predicted increased incidence of infection 30 days posttransplantation and increased incidence of infection with several organisms traditionally associated with a high mortality rate in the transplant population.
MeSH term(s)	Adolescent ; Adult ; Bacterial Infections/epidemiology ; Child ; Child, Preschool ; Cohort Studies ; Female ; Graft vs Host Disease ; Hematopoietic Stem Cell Transplantation ; Humans ; Incidence ; Infant ; Infant, Newborn ; Male ; Multivariate Analysis ; Mycoses/epidemiology ; North Carolina/epidemiology ; Opportunistic Infections/epidemiology ; Retrospective Studies ; Risk Factors ; Virus Diseases/epidemiology
Language	English
Publishing date	2002-03
Publishing country	United States
Document type	Journal Article
ZDB-ID	392481-6
ISSN	1532-0987 ; 0891-3668
ISSN (online)	1532-0987
ISSN	0891-3668
DOI	10.1097/00006454-200203000-00013
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Article: National trends in health care utilization and racial and socioeconomic disparities in pediatric pyogenic arthritis.

Freedman, Josh / Guller, Ulrich / Benjamin, Daniel Kelly / Higgins, Laurence D / Pan, Deng / Cook, Chad / Pietrobon, Ricardo

Journal of pediatric orthopedics

2006 Volume 26, Issue 6, Page(s) 709–715

Abstract: Purpose: To determine national trends and putative racial and socioeconomic disparities in health care utilization in pediatric patients with pyogenic arthritis over a 13-year period.: Study design: We assessed trends in length of hospital stay, ... ...

Abstract	Purpose: To determine national trends and putative racial and socioeconomic disparities in health care utilization in pediatric patients with pyogenic arthritis over a 13-year period. Study design: We assessed trends in length of hospital stay, hospital disposition, and inflation-adjusted charges for pediatric patients hospitalized with pyogenic arthritis based on 13 consecutive years (1988-2000) of the Nationwide Inpatient Sample. Patients with an International Classification of Diseases, Ninth Revision code of pyogenic arthritis were selected for this study. Trends in health care utilization were analyzed, stratified by age, prematurity, joint location, socioeconomic status, and race. Results: The median length of stay (LOS) decreased from 10 to 5 days in 1988 and 2000, respectively (P < 0.05). Whites had a shorter mean LOS (7.8 days) than nonwhites (10.7 days; P < 0.05). For both whites and nonwhites, LOS decreased significantly (P < 0.05), but the difference between the 2 groups remained constant. For patients with a higher socioeconomic status, LOS was shorter (P'< 0.05). The percentage of patients discharged to home'health care increased from 3.8% in 1988 to 18.9% in 2000 (P'< 0.05), but the increase was much greater for whites than nonwhites (P < 0.05). Inflation adjusted total charges increased over time, from a median total charge of 10,098 dollars in 1988 to a median total charge of 11,155 dollars in 2000 (P < 0.05). Conclusions: There was a trend toward decreased health care utilization, but no decrease in charges for pediatric pyogenic arthritis from 1988 to 2000. Racial disparities still exist, with little improvement over time.
MeSH term(s)	Adolescent ; Adult ; Arthritis, Infectious/economics ; Arthritis, Infectious/ethnology ; Arthritis, Infectious/therapy ; Child ; Child, Preschool ; Continental Population Groups ; Costs and Cost Analysis ; Female ; Hospital Charges/trends ; Hospital Mortality ; Hospitalization/economics ; Hospitalization/trends ; Humans ; Infant ; Male ; Quality Assurance, Health Care/trends ; Retrospective Studies ; Socioeconomic Factors ; United States/epidemiology ; Utilization Review/trends
Language	English
Publishing date	2006-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	604642-3
ISSN	1539-2570 ; 0271-6798
ISSN (online)	1539-2570
ISSN	0271-6798
DOI	10.1097/01.bpo.0000229973.78565.02
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Zs.A 1681: Show issues

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Article: Risk of endocarditis among patients with prosthetic valves and Staphylococcus aureus bacteremia.

El-Ahdab, Fadi / Benjamin, Daniel Kelly / Wang, Andrew / Cabell, Christopher H / Chu, Vivian H / Stryjewski, Martin E / Corey, G Ralph / Sexton, Daniel J / Reller, L Barth / Fowler, Vance G

The American journal of medicine

2005 Volume 118, Issue 3, Page(s) 225–229

Abstract: Purpose: Staphylococcus aureus is a common cause of bacteremia and of native valve infective endocarditis. However, the risk of endocarditis in patients with a prosthetic valve who develop S. aureus bacteremia is unclear. The aim of this study was to ... ...

Abstract	Purpose: Staphylococcus aureus is a common cause of bacteremia and of native valve infective endocarditis. However, the risk of endocarditis in patients with a prosthetic valve who develop S. aureus bacteremia is unclear. The aim of this study was to define the risk of prosthetic valve endocarditis in patients with S. aureus bacteremia. Subjects and methods: All patients with a prosthetic valve or ring who developed S. aureus bacteremia during the 94-month study period were prospectively evaluated. The modified Duke criteria were used for the diagnosis of endocarditis. Patients were followed up for 12 weeks after the initial diagnosis of S. aureus bacteremia. Results: The overall rate of definite prosthetic valve endocarditis among the study patients was 26/51 (51%). The risk of endocarditis was similar in patients with late (>or=12 months after valve implantation) vs. early S. aureus bacteremia (<12 months after prosthetic valve implantation) (50% vs. 52%, P=1.0), mitral vs. aortic prostheses (62% vs. 48%, P=0.24), and mechanical vs. bioprosthetic valves (62% vs. 44%, P=0.29). The 12-week mortality was higher among patients with definite vs. possible endocarditis (62% vs. 28%, P=0.019). Conclusion: In this investigation, approximately half of all patients with prosthetic valves who developed S. aureus bacteremia had definite endocarditis. The risk of endocarditis was independent of the type, location, or age of the prosthetic valve. The mortality of prosthetic valve endocarditis is high. All patients with a prosthetic valve who develop S. aureus bacteremia should be aggressively screened and followed for endocarditis.
MeSH term(s)	Bacteremia/microbiology ; Endocarditis, Bacterial/microbiology ; Endocarditis, Bacterial/mortality ; Female ; Heart Valve Prosthesis/adverse effects ; Heart Valve Prosthesis/microbiology ; Humans ; Logistic Models ; Male ; Middle Aged ; Prospective Studies ; Prosthesis-Related Infections/microbiology ; Staphylococcal Infections/mortality ; Staphylococcus aureus
Language	English
Publishing date	2005-03
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	80015-6
ISSN	1555-7162 ; 1873-2178 ; 0002-9343 ; 1548-2766
ISSN (online)	1555-7162 ; 1873-2178
ISSN	0002-9343 ; 1548-2766
DOI	10.1016/j.amjmed.2004.12.017
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Article: Infrequent diagnosis of primary human immunodeficiency virus infection: missed opportunities in acute care settings.

Weintrob, Amy C / Giner, Julieta / Menezes, Prema / Patrick, Ericka / Benjamin, Daniel Kelly / Lennox, Jeffrey / Pilcher, Christopher D / Eron, Joseph J / Hicks, Charles B

Archives of internal medicine

2003 Volume 163, Issue 17, Page(s) 2097–2100

Abstract: Although primary human immunodeficiency virus infection (PHI) is usually symptomatic and early management is likely important, the diagnosis is infrequently made. We examined a prospectively enrolled cohort of individuals diagnosed as having PHI in the ... ...

Abstract	Although primary human immunodeficiency virus infection (PHI) is usually symptomatic and early management is likely important, the diagnosis is infrequently made. We examined a prospectively enrolled cohort of individuals diagnosed as having PHI in the southeastern United States to determine problems associated with the diagnosis of PHI. The following information was collected on each individual: site of initial presentation, number of visits to health care settings before diagnosis, diagnosing physician, alternative diagnoses, presumptive therapies, and time to diagnosis of PHI. Data were available for 29 of 30 patients (17 white, 12 nonwhite). Most patients were seen at least 3 times before the diagnosis of PHI was made. White persons were seen more frequently by primary care providers (P =.09). Nonwhite persons were diagnosed more quickly (P =.045). Only 5 patients (17%) were correctly diagnosed during their first encounter with the health care system, while 5 (17%) remained undiagnosed for more than 1 month after first presentation. Infectious diseases specialists diagnosed 83% of the cases. Human immunodeficiency virus is infrequently diagnosed during primary infection. More expeditious diagnosis of human immunodeficiency virus infection is a clinical and public health imperative.
MeSH term(s)	Adult ; Clinical Competence ; Diagnostic Errors ; Female ; HIV Infections/diagnosis ; Humans ; Male ; Middle Aged ; Prospective Studies ; Time Factors ; United States ; Viral Load
Language	English
Publishing date	2003-09-22
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	211575-x
ISSN	1538-3679 ; 0003-9926 ; 0888-2479 ; 0730-188X
ISSN (online)	1538-3679
ISSN	0003-9926 ; 0888-2479 ; 0730-188X
DOI	10.1001/archinte.163.17.2097
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Article: Rare disorders of metabolism with elevated butyryl- and isobutyryl-carnitine detected by tandem mass spectrometry newborn screening.

Koeberl, Dwight D / Young, Sarah P / Gregersen, Niels S / Vockley, Jerry / Smith, Wendy E / Benjamin, Daniel Kelly / An, Yan / Weavil, Susan D / Chaing, Shu H / Bali, Deeksha / McDonald, Marie T / Kishnani, Priya S / Chen, Y-T / Millington, David S

Pediatric research

2003 Volume 54, Issue 2, Page(s) 219–223

Abstract: Tandem mass spectrometry was adopted for newborn screening by North Carolina in April 1999. Since then, three infants with short-chain acyl-CoA dehydrogenase (SCAD) and one with isobutyryl-CoA dehydrogenase deficiency were detected on the basis of ... ...

Abstract	Tandem mass spectrometry was adopted for newborn screening by North Carolina in April 1999. Since then, three infants with short-chain acyl-CoA dehydrogenase (SCAD) and one with isobutyryl-CoA dehydrogenase deficiency were detected on the basis of elevated butyrylcarnitine/isobutyrylcarnitine (C4-carnitine) concentrations in newborn blood spots analyzed by tandem mass spectrometry. For three SCAD-deficient infants, biochemical evaluation included a plasma acylcarnitine profile with markedly elevated C4-carnitine, urine organic acid analysis with markedly elevated ethylmalonic and 2-methylsuccinic acids, and markedly elevated [U-13C]butyrylcarnitine concentrations in medium from fibroblasts incubated with [U-13C]palmitic acid and excess l-carnitine, consistent with classic SCAD deficiency. Two of three infants diagnosed with classic SCAD deficiency remained asymptomatic; however, the third infant presented with seizures and a cerebral infarct at 10 wk of age. All three infants had putatively inactivating mutations in both alleles of the SCAD gene. The highly elevated plasma C4-carnitine levels in the three infants detected by newborn screening tandem mass spectrometry differentiated them from infants and children who were homozygous or compound heterozygous for one of two SCAD gene susceptibility variations; for the latter group the C4-carnitine levels were normal. Isobutyryl-CoA dehydrogenase deficiency in a fourth infant was confirmed after isolated elevation of C4-carnitine in the acylcarnitine profile.
MeSH term(s)	Butyryl-CoA Dehydrogenase/deficiency ; Carnitine/analogs & derivatives ; Carnitine/metabolism ; Cells, Cultured ; Fibroblasts/cytology ; Fibroblasts/metabolism ; Humans ; Infant, Newborn ; Mass Spectrometry ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/metabolism ; Neonatal Screening/methods ; Oxidoreductases Acting on CH-CH Group Donors/deficiency
Chemical Substances	isobutyryl-1-carnitine (25518-49-4) ; butyrylcarnitine (25576-40-3) ; Oxidoreductases Acting on CH-CH Group Donors (EC 1.3.-) ; Butyryl-CoA Dehydrogenase (EC 1.3.8.1) ; 2-methylacyl-CoA dehydrogenase (EC 1.3.99.12) ; Carnitine (S7UI8SM58A)
Language	English
Publishing date	2003-08
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Research Support, U.S. Gov't, P.H.S.
ZDB-ID	4411-8
ISSN	1530-0447 ; 0031-3998
ISSN (online)	1530-0447
ISSN	0031-3998
DOI	10.1203/01.PDR.0000074972.36356.89
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In stock of ZB MED Cologne/Königswinter

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In stock of ZB MED Cologne/Königswinter

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In stock of ZB MED Cologne/Königswinter

Order via subito