14 results on '"Powell CK"'
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2. Determining levels of physical activity in attending physicians, resident and fellow physicians and medical students in the USA.
- Author
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Stanford FC, Durkin MW, Blair SN, Powell CK, Poston MB, and Stallworth JR
- Abstract
Objective Evidence suggests that the level of physical activity of physicians can be correlated directly with physician counselling patterns about this behaviour. Our objective was to determine if medical students, resident and fellow physicians and attending physicians meet the physical activity guidelines set forth by the US Department of Health and Human Services. Methods A representative cross-sectional web-based survey was conducted in June 2009-January 2010 throughout the USA (N=1949). Using the short form of the International Physical Activity Questionnaire, the authors gathered demographical data and information related to physical activity, the level of training, the number of work hours per week, body mass index (BMI), confidence about counselling about physical activity and frequency with which the physical activity is encouraged to his/her patients. Results Based on the 1949 respondents, attending physicians (84.8%) and medical students (84%) were more likely than resident (73.2%) and fellow physicians (67.9%) to meet physical activity guidelines. Conclusion Physicians and medical students engage in more physical activity and tend to have a lower BMI than the general population. Resident and fellow physicians engage in less physical activity than attending physicians and medical students. [ABSTRACT FROM AUTHOR]
- Published
- 2012
3. Evaluating no fixation, endoscopic suture fixation, and an over-the-scope clip for anchoring fully covered self-expanding metal stents in benign upper gastrointestinal conditions: a comparative multicenter international study (With Video).
- Author
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Mehta A, Ashhab A, Shrigiriwar A, Assefa R, Canakis A, Frohlinger M, Bouvette CA, Matus G, Punkenhofer P, Mandarino FV, Azzolini F, Samaan JS, Advani R, Desai SK, Confer B, Sangwan VK, Pineda-Bonilla JJ, Lee DP, Modi K, Eke C, Schiemer M, Rondini E, Dolak W, Agarunov E, Duku M, Telese A, Pawa R, Pawa S, Velasco NZ, Farha J, Berrien-Lopez R, Abu S, McLean-Powell CK, Kim RE, Rumman A, Spaun GO, Arcidiacono PG, Park KH, Khara HS, Diehl DL, Kedia P, Kuellmer A, Manta R, Gonda TA, Sehgal V, Haidry R, and Khashab MA
- Abstract
Background and Aims: Fully covered self-expandable metal stents (FCSEMSs) are widely used in benign upper gastrointestinal (GI) conditions, but stent migration remains a limitation. An over-the-scope clip (OTSC) device (Stentfix {SF], Ovesco Endoscopy) for stent anchoring has recently been developed. The aim of this study was to evaluate the effect of OTSC fixation on FCSEMS migration rate., Methods: In this retrospective review of consecutive patients who underwent FCSEMS placement for benign upper GI conditions from January 2011 to October 2022 at 16 centers, the primary outcome was rate of stent migration. The secondary outcomes were clinical success and adverse events., Results: A total of 311 (no fixation [NF] 122, SF 94, endoscopic suturing [ES] 95) patients underwent 316 stenting procedures. Compared with the NF group (n = 49, 39%), the rates of stent migration were significantly lower in the SF (n = 16, 17%, P = .001) and ES (n = 23, 24%, P = .01) groups. The rates of stent migration were not different between the SF and ES groups (P = .2). On multivariate analysis, SF (odds ratio [OR], 0.34, 95% CI, 0.17-0.70, P < .01) and ES (OR, 0.46, 95% CI, 0.23-0.91; P = .02) were independently associated with decreased risk of stent migration. Compared with the NF group (n = 64; 52%), there were higher rates of clinical success in the SF (n = 64; 68%; P = .03) and ES (n = 66; 69%; P = .02) groups. There was no significant difference in the rates of adverse events among the 3 groups., Conclusion: Stent fixation using OTSCs is safe and effective at preventing stent migration and may also result in improved clinical response., Competing Interests: Disclosure The following authors disclosed financial relationships: B. Confer: consultant for Boston Scientific, J.J. Pineda-Bonilla: consultant for Boston Scientific, R. Pawa: consultant for Boston Scientific and Cook Medical, S. Pawa: consultant for Boston Scientific, R.E. Kim: consultant for Boston Scientific and Cook Medical, H.S. Khara: consultant for Boston Scientific, Cook Medical, ConMed, Pentax, Medtronic, and Olympus, G.O. Spaun - consultant for Boston Scientific, K.H. Park: consultant for Olympus, Endorobotics, MicroTech, D.D. Diehl: consultant for Boston Scientific, Micro-Tech, Lumendi, Merit, Pentax, Actuated Medical, Steris, and Olympus, P. Kedia: consultant for Boston Scientific, Medtronic, and Olympus, M.A. Khashab: consultant for Boston Scientific, UpToDate, Olympus America, Medtronic, Pentax, and GI Supply, and royalites from Elsevier. The other authors disclosed no financial relationships., (Copyright © 2024 American Society for Gastrointestinal Endoscopy. Published by Elsevier Inc. All rights reserved.)
- Published
- 2024
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4. The evolution of an integrated ultrasound curriculum (iUSC) for medical students: 9-year experience.
- Author
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Hoppmann RA, Rao VV, Bell F, Poston MB, Howe DB, Riffle S, Harris S, Riley R, McMahon C, Wilson LB, Blanck E, Richeson NA, Thomas LK, Hartman C, Neuffer FH, Keisler BD, Sims KM, Garber MD, Shuler CO, Blaivas M, Chillag SA, Wagner M, Barron K, Davis D, Wells JR, Kenney DJ, Hall JW, Bornemann PH, Schrift D, Hunt PS, Owens WB, Smith RS, Jackson AG, Hagon K, Wilson SP, Fowler SD, Catroppo JF, Rizvi AA, Powell CK, Cook T, Brown E, Navarro FA, Thornhill J, Burgis J, Jennings WR, McCallum JB, Nottingham JM, Kreiner J, Haddad R, Augustine JR, Pedigo NW, and Catalana PV
- Abstract
Interest in ultrasound education in medical schools has increased dramatically in recent years as reflected in a marked increase in publications on the topic and growing attendance at international meetings on ultrasound education. In 2006, the University of South Carolina School of Medicine introduced an integrated ultrasound curriculum (iUSC) across all years of medical school. That curriculum has evolved significantly over the 9 years. A review of the curriculum is presented, including curricular content, methods of delivery of the content, student assessment, and program assessment. Lessons learned in implementing and expanding an integrated ultrasound curriculum are also presented as are thoughts on future directions of undergraduate ultrasound education. Ultrasound has proven to be a valuable active learning tool that can serve as a platform for integrating the medical student curriculum across many disciplines and clinical settings. It is also well-suited for a competency-based model of medical education. Students learn ultrasound well and have embraced it as an important component of their education and future practice of medicine. An international consensus conference on ultrasound education is recommended to help define the essential elements of ultrasound education globally to ensure ultrasound is taught and ultimately practiced to its full potential. Ultrasound has the potential to fundamentally change how we teach and practice medicine to the benefit of learners and patients across the globe.
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- 2015
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5. Factors that influence physicians' and medical students' confidence in counseling patients about physical activity.
- Author
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Stanford FC, Durkin MW, Stallworth JR, Powell CK, Poston MB, and Blair SN
- Subjects
- Adult, Aged, Attitude of Health Personnel, Body Mass Index, Counseling statistics & numerical data, Guideline Adherence statistics & numerical data, Health Care Surveys, Humans, Internet, Logistic Models, Middle Aged, Physicians statistics & numerical data, Practice Patterns, Physicians' statistics & numerical data, Self Efficacy, Self Report, Students, Medical statistics & numerical data, United States, United States Dept. of Health and Human Services, Young Adult, Exercise, Health Behavior, Health Promotion methods, Physicians psychology, Students, Medical psychology
- Abstract
Less than half of US adults and two-thirds of US high school students do not meet current US guidelines for physical activity. We examined which factors promoted physicians' and medical students' confidence in counseling patients about physical activity. We established an online exercise survey targeting attending physicians, resident and fellow physicians, and medical students to determine their current level of physical activity and confidence in counseling patients about physical activity. We compared their personal level of physical activity with the 2008 Physical Activity Guidelines of the US Department of Health and Human Services (USDHHS). We administered a survey in 2009 and 2010 that used the short form of the International Physical Activity Questionnaire. A total of 1,949 individuals responded to the survey, of whom 1,751 (i.e., 566 attending physicians, 138 fellow physicians, 806 resident physicians, and 215 medical students) were included in this analysis. After adjusting for their BMI, the odds that physicians and medical students who met USDHHS guidelines for vigorous activity would express confidence in their ability to provide exercise counseling were more than twice that of physicians who did not meet these guidelines. Individuals who were overweight were less likely to be confident than those with normal BMI, after adjusting for whether they met the vigorous exercise guidelines. Physicians with obesity were even less likely to express confidence in regards to exercise counseling. We conclude that physicians and medical students who had a normal BMI and met vigorous USDHHS guidelines were more likely to feel confident about counseling their patients about physical activity. Our findings suggest that graduate medical school education should focus on health promotion in their students, as this will likely lead to improved health behaviors in their students' patient populations.
- Published
- 2014
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6. An integrated ultrasound curriculum (iUSC) for medical students: 4-year experience.
- Author
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Hoppmann RA, Rao VV, Poston MB, Howe DB, Hunt PS, Fowler SD, Paulman LE, Wells JR, Richeson NA, Catalana PV, Thomas LK, Britt Wilson L, Cook T, Riffle S, Neuffer FH, McCallum JB, Keisler BD, Brown RS, Gregg AR, Sims KM, Powell CK, Garber MD, Morrison JE, Owens WB, Carnevale KA, Jennings WR, and Fletcher S
- Abstract
A review of the development and implementation of a 4-year medical student integrated ultrasound curriculum is presented. Multiple teaching and assessment modalities are discussed as well as results from testing and student surveys. Lessons learned while establishing the curriculum are summarized. It is concluded that ultrasound is a well received, valuable teaching tool across all 4 years of medical school, and students learn ultrasound well, and they feel their ultrasound experience enhances their medical education.
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- 2011
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7. Impact of the foundations of clinical medicine course on USMLE scores.
- Author
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Brownfield EL, Blue AV, Powell CK, Geesey ME, and Moran WP
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- Adult, Clinical Clerkship, Educational Measurement, Female, Humans, Licensure, Medical, Male, Clinical Medicine education, Curriculum, Education, Medical, Undergraduate, Science education
- Abstract
Background: The synthesis of basic and clinical science knowledge during the clerkship years has failed to meet educational expectations., Objectives: We hypothesized that a small-group course emphasizing the basic science underpinnings of disease, Foundations of Clinical Medicine (FCM), could be integrated into third year clerkships and would not negatively impact the United States Medical Licensure Examination (USMLE) step 2 scores., Design: In 2001-2002, all third year students met weekly in groups of 8-12 clustered within clerkships to discuss the clinical and basic science aspects of prescribed, discipline-specific cases., Participants: Students completing USMLE step 2 between 1999 and 2004 (n = 743)., Measurements: Course evaluations were compared with the overall institutional average. Bivariate analyses compared the mean USMLE steps 1 and 2 scores across pre- and post-FCM student cohorts. We used multiple linear regression to assess the association between USMLE step 2 scores and FCM cohort controlling for potential confounders., Results: Students' average course evaluation score rose from 66 to 77 (2001-2004) compared to an institutional average of 73. The unadjusted mean USMLE step 1 score was higher for the post-FCM cohort (212.9 vs 207.5, respectively, p < .001) and associated with step 2 scores (estimated coefficient = 0.70, p < .001). Post-FCM cohort (2002-2004; n = 361) mean step 2 scores topped pre-FCM (1999-2001; n = 382) scores (215.9 vs 207.7, respectively, p < .001). FCM cohort remained a significant predictor of higher step 2 scores after adjustment for USMLE step 1 and demographic characteristics (estimated coefficient = 4.3, p = .002)., Conclusions: A curriculum integrating clinical and basic sciences during third year clerkships is feasible and associated with improvement in standardized testing.
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- 2008
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8. The relationship between health literacy and diabetes knowledge and readiness to take health actions.
- Author
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Powell CK, Hill EG, and Clancy DE
- Subjects
- Analysis of Variance, Diabetes Mellitus, Type 2 rehabilitation, Educational Status, Humans, Medically Underserved Area, South Carolina, Diabetes Mellitus, Type 2 psychology, Health Behavior, Health Knowledge, Attitudes, Practice
- Abstract
Purpose: The purpose of this study was to explore the relationship among health literacy, patients' readiness to take health actions, and diabetes knowledge among individuals with type 2 diabetes., Methods: Sixty-eight patients with type 2 diabetes receiving care in an academic general internal medicine clinic were administered the Rapid Estimate of Adult Literacy in Medicine (REALM) literacy instrument prior to completing the Diabetes Health Belief Model (DHBM) scale and Diabetes Knowledge Test (DKT). Multivariable linear regression was used to assess the association between REALM literacy level, DKT score, DHBM scale score, and most recent hemoglobin A1C level while controlling for other covariates of interest., Results: After controlling for other covariates of interest, no significant association between DHBM scale score and REALM literacy level was found (P = .29). However, both DKT score and most recent hemoglobin A1Clevel were found to be significantly associated with patient literacy (P = .004 and P = .02, respectively). Based on the multivariable model, patients with less than a fourth-grade literacy level had 13% lower DKT scores (95% confidence interval [CI], -28% to -2%; P = .08) and 1.36% higher most recent hemoglobin A1Clevels (95% CI, 1.06% to 1.73%; P = .02) relative to those with a high school literacy level., Conclusions: Low health literacy is a problem faced by many patients that affects their ability to navigate the health care system and manage their chronic illnesses. While low health literacy was significantly associated with worse glycemic control and poorer disease knowledge in patients with type 2 diabetes, there was no significant relationship with their readiness to take action in disease management.
- Published
- 2007
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9. Brief report: Trainee provider perceptions of group visits.
- Author
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Davis KS, Magruder KM, Lin Y, Powell CK, and Clancy DE
- Subjects
- Adult, Female, Humans, Internship and Residency, Male, Medically Uninsured, Patient Education as Topic methods, Physician Assistants education, Physician-Patient Relations, Program Evaluation, Students, Medical, Ambulatory Care methods, Attitude of Health Personnel, Group Processes, Internal Medicine education, Primary Health Care methods
- Abstract
Objective: To evaluate the effect of observing group visits on trainees' perceptions of group visits as a method of health care delivery., Research Design and Methods: Thirty-two trainees assigned to month-long rotations at an academic Internal Medicine Primary Care Clinic serving underinsured patients were recruited to observe between 1 and 4 group visits. Prior to observation of their first, and subsequent to observation of their last group visit, each trainee completed the Patient-Physician Orientation Scale (PPOS), a validated survey evaluating their tendencies toward being patient-centered or provider-centered. Additionally, they completed a Group Visit Questionnaire (GVQ) evaluating their perceptions of group visits as a method of health care delivery., Results: Trainee gender, type, and level of training were similarly represented across the study population of trainees. While there were no significant differences noted on pre- and postobservation PPOS scores, the postobservation GVQs scores were significantly improved after observing at least one group visit (P<.0001)., Conclusion: Trainees' perceptions of group visits as a method of health care delivery improved significantly after observation of at least 1 group as measured by the GVQ.
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- 2006
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10. Brief report: Resident recognition of low literacy as a risk factor in hospital readmission.
- Author
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Powell CK and Kripalani S
- Subjects
- Academic Medical Centers, Female, Humans, Language Arts, Male, Patient Readmission, Self Care, Surveys and Questionnaires, Treatment Refusal, Educational Status, Internship and Residency, Patient Education as Topic, Physician-Patient Relations
- Abstract
Background: Low literacy is associated with poor self-management of disease and increased hospitalization, yet few studies have explored the extent to which physicians consider literacy in their patient care., Objective: To examine trainee recognition of low literacy as a potential factor in patient adherence and hospital readmission., Design and Participants: Randomized study of 98 Internal Medicine residents and medical students. Trainees reviewed a case history and completed a questionnaire pertaining to a fictional patient's hospital readmission. Case version A contained clues to suggest limited patient literacy skills, while version B did not. Responses were reviewed for mention of low literacy and educational strategies recommended for low-literate patients., Results: Few trainees raised the possibility of low patient literacy, even when provided clues (25% in Group A vs 4% in Group B, P=.003). Furthermore, while most trainees listed patient education as an important means of preventing another readmission, only 16% suggested using a strategy recommended for low-literate adults., Conclusion: Few trainees recognized low literacy as a potential factor in patient nonadherence and hospital readmission, and few recommended low-literate educational strategies. Medical residents and students may benefit from additional training in the recognition and counseling of low-literate patients.
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- 2005
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11. Maternal acute fatty liver of pregnancy associated with fetal trifunctional protein deficiency: molecular characterization of a novel maternal mutant allele.
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Isaacs JD Jr, Sims HF, Powell CK, Bennett MJ, Hale DE, Treem WR, and Strauss AW
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- 3-Hydroxyacyl CoA Dehydrogenases genetics, Acute Disease, Adult, Alleles, Exons, Fatty Liver genetics, Female, Fetal Proteins genetics, Humans, Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase, Mitochondrial Trifunctional Protein, Multienzyme Complexes chemistry, Multienzyme Complexes genetics, Mutation, Nucleic Acid Hybridization methods, Oligonucleotide Probes, Pedigree, Peptide Fragments genetics, Pregnancy, 3-Hydroxyacyl CoA Dehydrogenases deficiency, Fatty Liver physiopathology, Fetal Proteins deficiency, Multienzyme Complexes deficiency, Pregnancy Complications physiopathology
- Abstract
Acute fatty liver of pregnancy (AFLP) is a devastating late gestational complication with many similarities to the inherited disorders of mitochondrial fatty acid oxidation. We report the molecular defects in a woman with AFLP and her infant who subsequently was diagnosed with trifunctional protein (TFP) deficiency. We used single-stranded conformation variance and DNA sequence analyses of the human TFP alpha-subunit gene, which encodes the long chain 3-hydroxyacyl-CoA dehydrogenase (LCHAD) activity, to demonstrate a C to T mutation (C1678T) in exon 16 present on one allele in the mother and the affected infant. This creates a premature termination codon (R524Stop) in the LCHAD domain. Using reverse transcriptase-PCR amplification of the alpha-subunit mRNA from cultured fibroblasts, we demonstrated that transcripts containing this R524Stop mutation are present at very low levels, presumably because of rapid mRNA degradation. The affected infant also had the common E474Q mutation (nucleotide G1528C) on the second allele. Thus, he is a compound heterozygote. The father and two normal siblings are heterozygous for this E474Q mutation. This initial delineation of the R524Stop mutation provides evidence of the heterogeneity of genetic defects responsible for TFP deficiency and AFLP.
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- 1996
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12. Molecular basis of human mitochondrial very-long-chain acyl-CoA dehydrogenase deficiency causing cardiomyopathy and sudden death in childhood.
- Author
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Strauss AW, Powell CK, Hale DE, Anderson MM, Ahuja A, Brackett JC, and Sims HF
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- Acyl-CoA Dehydrogenase, Long-Chain deficiency, Base Sequence, DNA, Complementary genetics, Exons, Female, Humans, Infant, Male, Molecular Sequence Data, Pedigree, Polymerase Chain Reaction, Acyl-CoA Dehydrogenase, Long-Chain genetics, Cardiomyopathies genetics, Death, Sudden, Mitochondria enzymology, Mutation
- Abstract
beta-Oxidation of long-chain fatty acids provides the major source of energy in the heart. Defects in enzymes of the beta-oxidation pathway cause sudden, unexplained death in childhood, acute hepatic encephalopathy or liver failure, skeletal myopathy, and cardiomyopathy. Very-long-chain acyl-CoA dehydrogenase [VLCAD; very-long-chain-acyl-CoA:(acceptor) 2,3-oxidoreductase, EC 1.3.99.13] catalyzes the first step in beta-oxidation. We have isolated the human VLCAD cDNA and gene and determined the complete nucleotide sequences. Polymerase chain reaction amplification of VLCAD mRNA and genomic exons defined the molecular defects in two patients with VLCAD deficiency who presented with unexplained cardiac arrest and cardiomyopathy. In one, a homozygous mutation in the consensus dinucleotide of the donor splice site (g+1-->a) was associated with universal skipping of the prior exon (exon 11). The second patient was a compound heterozygote, with a missense mutation, C1837-->T, changing the arginine at residue 613 to tryptophan on one allele and a single base deletion at the intron-exon 6 boundary as the second mutation. This initial delineation of human mutations in VLCAD suggests that VLCAD deficiency reduces myocardial fatty acid beta-oxidation and energy production and is associated with cardiomyopathy and sudden death in childhood.
- Published
- 1995
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13. Two alpha subunit donor splice site mutations cause human trifunctional protein deficiency.
- Author
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Brackett JC, Sims HF, Rinaldo P, Shapiro S, Powell CK, Bennett MJ, and Strauss AW
- Subjects
- 3-Hydroxyacyl CoA Dehydrogenases deficiency, Base Sequence, Carboxylic Acids urine, Cesarean Section, Chromatography, Gas, DNA Primers, Death, Sudden, Exons, Fatty Acids urine, Female, Heterozygote, Humans, Infant, Newborn, Introns, Macromolecular Substances, Male, Mitochondria enzymology, Molecular Sequence Data, Polymerase Chain Reaction, Pregnancy, 3-Hydroxyacyl CoA Dehydrogenases genetics, Alternative Splicing, Point Mutation, Sequence Deletion
- Abstract
Human trifunctional protein catalyzes three steps in mitochondrial beta-oxidation of fatty acids, including the long chain 3-hydroxyacyl-CoA dehydrogenase step. Deficiency of this heterocomplex, which contains 4 alpha and 4 beta subunits, causes sudden unexplained infant death, a Reye-like syndrome, cardiomyopathy, or skeletal myopathy. We determined the molecular basis of this deficiency in a patient with neonatal presentation and later sudden death using reverse transcription and PCR amplification of his alpha subunit mRNA. We demonstrated a universal deletion of exon 3 (71 bp) in his mRNA. This deletion causes a frameshift and very early premature termination. Amplification of genomic DNA demonstrated that the patient was a compound heterozygote with two different mutations in the 5' donor splice site following exon 3: a paternally inherited G to A transversion at the invariant position +1 and a maternally inherited A to G mutation at position +3. Both allelic mutations apparently cause exon 3 skipping, resulting in undetectable levels of alpha subunit protein, and complete loss of trifunctional protein. This is the initial molecular characterization of trifunctional protein deficiency.
- Published
- 1995
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14. The molecular basis of pediatric long chain 3-hydroxyacyl-CoA dehydrogenase deficiency associated with maternal acute fatty liver of pregnancy.
- Author
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Sims HF, Brackett JC, Powell CK, Treem WR, Hale DE, Bennett MJ, Gibson B, Shapiro S, and Strauss AW
- Subjects
- 3-Hydroxyacyl CoA Dehydrogenases metabolism, Amino Acid Sequence, Base Sequence, Cells, Cultured, Cloning, Molecular, Exons genetics, Female, Fibroblasts enzymology, HELLP Syndrome, Humans, Hypoglycemia, Infant, Infant, Newborn, Long-Chain-3-Hydroxyacyl-CoA Dehydrogenase, Male, Mitochondrial Trifunctional Protein, Molecular Sequence Data, Point Mutation genetics, Polymorphism, Single-Stranded Conformational, Pregnancy, Sudden Infant Death, 3-Hydroxyacyl CoA Dehydrogenases deficiency, 3-Hydroxyacyl CoA Dehydrogenases genetics, Fatty Liver complications, Lipid Metabolism, Inborn Errors genetics, Multienzyme Complexes genetics, Pregnancy Complications
- Abstract
Mitochondrial long chain fatty acid beta-oxidation provides the major source of energy in the heart. Deficiencies of human beta-oxidation enzymes produce sudden, unexplained death in childhood, acute hepatic encephalopathy, skeletal myopathy, or cardiomyopathy. Long chain 3-hydroxyacyl-CoA dehydrogenase [LCHAD; long-chain-(S)-3-hydroxyacyl-CoA:NAD+ oxidoreductase, EC 1.1.1.211] catalyzes the third step in beta-oxidation, and this activity is present on the C-terminal portion of the alpha subunit of mitochondrial trifunctional protein. We used single-stranded conformation variance analysis of the exons of the human LCHAD (alpha subunit) gene to determine the molecular basis of LCHAD deficiency in three families with children presenting with sudden unexplained death or hypoglycemia and abnormal liver enzymes (Reye-like syndrome). In all families, the mothers had acute fatty liver and associated sever complications during pregnancies with the affected infants. The analysis in two affected children revealed a G to C mutation at position 1528 (G1528C) of the alpha subunit of the trifunctional protein on both alleles. This is in the LCHAD domain and substitutes glutamine for glutamic acid at position 474 of mature alpha subunit. The third child had this G1528C mutation on one allele and a different mutation (C1132T) creating a premature termination codon (residue 342) on the second allele. Our results demonstrate that mutations in the LCHAD domain of the trifunctional protein alpha subunit in affected offspring are associated with maternal acute fatty liver of pregnancy. This is the initial delineation of the molecular basis of isolated LCHAD deficiency.
- Published
- 1995
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