21 results on '"Alexandra B Columbus"'
Search Results
2. Leadership Styles Among Female Surgical Department Chairs
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Vanessa M, Welten, Kirsten F A A, Dabekaussen, Susanna S, Hill, Alexandra B, Columbus, Pamela W, Lu, Adam C, Fields, Amanda J, Reich, Jennifer S, Davids, and Nelya, Melnitchouk
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Academic Medical Centers ,Leadership ,Humans ,Female - Published
- 2022
3. Gender Differences in Surgeon Burnout and Barriers to Career Satisfaction: A Qualitative Exploration
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Adam C. Fields, Alexandra B. Columbus, Pamela Lu, Nancy L. Cho, and Nelya Melnitchouk
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Adult ,Male ,medicine.medical_specialty ,Faculty, Medical ,health care facilities, manpower, and services ,media_common.quotation_subject ,Sexism ,education ,Burnout ,Job Satisfaction ,03 medical and health sciences ,Sex Factors ,0302 clinical medicine ,Surveys and Questionnaires ,medicine ,Gender bias ,Humans ,Risk factor ,Workplace ,Burnout, Professional ,Qualitative Research ,media_common ,Surgeons ,Teamwork ,Middle Aged ,Collegiality ,Career satisfaction ,Work life ,030220 oncology & carcinogenesis ,Family medicine ,Grounded Theory ,Female ,030211 gastroenterology & hepatology ,Surgery ,Psychology ,Associate professor ,psychological phenomena and processes - Abstract
Background Physician burnout is a highly prevalent issue in the surgical community. Burnout is associated with poor career satisfaction; female gender, and younger age place surgeons at higher risk for burnout. Here, we examined drivers behind burnout and career dissatisfaction in female and junior surgical faculty, with specific attention paid to gender-based differences. Materials and methods Participants included full-time surgery faculty members at a single academic surgery center. Both male and female faculty members were included, at ranks ranging from instructor to associate professor. Semistructured interviews were conducted by a faculty member at the institution until thematic saturation was reached. Field notes were compiled from each interview, and these data were coded thematically. Results Fourteen female faculty and nine male faculty members were interviewed. For both female and male faculty, lack of control with work life was a significant theme contributing to burnout. Positive factors contributing to career satisfaction for both genders included enjoyment of patient care and teaching, teamwork and collegiality, and leadership support. For female faculty, the major theme of gender bias in the workplace as a risk factor for burnout was prominent. Male faculty struggled more than their female counterparts with guilt over complications and second victim syndrome. Conclusions Gender differences driving career dissatisfaction and burnout exist between female and male surgical faculty. Acknowledging these differences when designing efforts to address physician wellness and decrease burnout is critical.
- Published
- 2020
4. 'What Just Happened to My Residency?' The Effect of the Early Coronavirus Disease 2019 Pandemic on Colorectal Surgical Training
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Patricia L. Roberts, Elizabeth M. Breen, Peter W. Marcello, Julia T. Saraidaridis, Jonathan S. Abelson, David A. Kleiman, Angela H. Kuhnen, and Alexandra B Columbus
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Adult ,Male ,medicine.medical_specialty ,2019-20 coronavirus outbreak ,Coronavirus disease 2019 (COVID-19) ,Attitude of Health Personnel ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,MEDLINE ,Surveys and Questionnaires ,Pandemic ,Medicine ,Humans ,Intensive care medicine ,Pandemics ,business.industry ,Gastroenterology ,COVID-19 ,Internship and Residency ,General Medicine ,Surgical training ,United States ,Female ,Clinical Competence ,Clinical competence ,business ,Colorectal Surgery - Published
- 2021
5. Qualitative Analysis of a Cultural Dexterity Program for Surgeons: Feasible, Impactful, and Necessary
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Manuel Castillo-Angeles, Tara S. Kent, John T. Mullen, Adil H. Haider, Rhea Udyavar, Douglas S. Smink, Alexandra B. Columbus, Alyssa F. Harlow, and Alexander A. Green
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Adult ,Male ,education ,Experiential learning ,Flipped classroom ,Grounded theory ,Education ,03 medical and health sciences ,0302 clinical medicine ,Social skills ,Humans ,030212 general & internal medicine ,Cultural Competency ,Curriculum ,Qualitative Research ,Independent study ,Medical education ,Academic year ,Internship and Residency ,Problem-Based Learning ,Focus Groups ,Culturally Competent Care ,Focus group ,United States ,Education, Medical, Graduate ,General Surgery ,030220 oncology & carcinogenesis ,Female ,Surgery ,Clinical Competence ,Psychology ,Program Evaluation - Abstract
Objectives Ineffective cross-cultural communication contributes to adverse outcomes for minority patients. To address this, the authors developed a novel curriculum for surgical residents built on the principle of cultural dexterity, emphasizing adaptability to clinical and sociocultural circumstances to tailor care to the needs of the individual patient. This study’s objective was to evaluate the feasibility, acceptability, and perception of this program upon conclusion of its first year. Design, Setting, and Participants The curriculum was implemented at 3 general surgery programs. The flipped classroom model combined independent study via e-learning modules with interactive role-playing sessions. Sessions took place over 1 academic year. Four focus groups were held, each with 6 to 9 participants, to gain feedback on the curriculum. Focus groups were recorded and transcribed, and the data were analyzed using a grounded theory approach. Results Five major themes emerged: (1) Role modeling from senior colleagues is integral in developing communication/interpersonal skills and attitudes toward cultural dexterity. (2) Cultural dexterity is relevant to the provision of high-quality surgical care. (3) Barriers to providing culturally dexterous care exist at the system level. (4) “Buy-in” at all levels of the institution is necessary to implement the principles of cultural dexterity. (5) The shared experience of discussing the challenges and triumphs of caring for a diverse population was engaging and impactful. Conclusion Early implementation of the curriculum revealed that the tension between surgical residents’ desire to improve their cultural dexterity and systemic/practical obstacles can be resolved. Combining surgically relevant didactic materials with experiential learning activities can change the paradigm of cross-cultural training.
- Published
- 2018
6. An evidence-based intraoperative communication tool for emergency general surgery: a pilot study
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Alexandra B. Columbus, Joaquim M. Havens, William R. Berry, Adil H. Haider, Manuel Castillo-Angeles, and Ali Salim
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Operating Rooms ,medicine.medical_specialty ,Evidence-based practice ,Nurses ,Pilot Projects ,030230 surgery ,03 medical and health sciences ,Patient safety ,0302 clinical medicine ,Patient disposition ,Team communication ,medicine ,Humans ,Acute care surgery ,Set (psychology) ,Emergency Treatment ,Patient Care Team ,Surgeons ,High rate ,Evidence-Based Medicine ,Intraoperative Care ,Communication ,General surgery ,Human patient ,030208 emergency & critical care medicine ,Awareness ,Anesthesiologists ,Surgery ,Psychology - Abstract
Background Emergency general surgery (EGS) is characterized by high rates of morbidity and mortality. Though checklists and associated communication-based huddle strategies have improved outcomes, these tools have never been specifically examined in EGS. We hypothesized that use of an evidence-based communication tool aimed to trigger intraoperative discussion could improve communication in the EGS operating room (OR). Materials and methods We designed a set of discussion prompts based on modifiable factors identified from previously published studies aimed to encourage all team members to speak up and to centralize awareness of patient disposition and intraoperative transfusion practices. This tool was pilot-tested using OR human patient simulators and was then rolled out to EGS ORs at an academic medical center. The perceived effect of our tool's implementation was evaluated through mixed-methodologic presurvey and postsurvey analysis. Results Preimplementation and postimplementation survey-based data revealed that providers reported the EGS-focused discussion prompts as improving team communication in EGS. A trend toward shared awareness of intraoperative events was observed; however, nurses described cultural impedance of discussion initiation. Providers described a need for further reinforcement of the tool and its indications during implementation. Conclusions Use of a discussion-based communication tool is perceived as supporting team communication in the EGS OR and led to a trend toward improving a shared understanding of intraoperative events. Analyses suggest the need for enhanced reinforcement of use during implementation and improvement of team-based education regarding EGS. Furthermore work is needed to understand the full impact of this evidence-based tool on OR team dynamics and EGS patient outcomes.
- Published
- 2018
7. Critical differences between elective and emergency surgery: identifying domains for quality improvement in emergency general surgery
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Elizabeth J. Lilley, Alyssa F. Harlow, Adil H. Haider, Ali Salim, Joaquim M. Havens, Alexandra B. Columbus, and Megan A. Morris
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medicine.medical_specialty ,Quality management ,MEDLINE ,030230 surgery ,Grounded theory ,Interviews as Topic ,03 medical and health sciences ,Postoperative Complications ,0302 clinical medicine ,Multidisciplinary approach ,Credibility ,Humans ,Medicine ,Qualitative Research ,business.industry ,General surgery ,030208 emergency & critical care medicine ,Focus Groups ,Quality Improvement ,Focus group ,Elective Surgical Procedures ,General Surgery ,Workforce ,Surgery ,Emergencies ,business ,Qualitative research - Abstract
Objective The objective of our study was to characterize providers' impressions of factors contributing to disproportionate rates of morbidity and mortality in emergency general surgery to identify targets for care quality improvement. Background Emergency general surgery is characterized by a high-cost burden and disproportionate morbidity and mortality. Factors contributing to these observed disparities are not comprehensively understood and targets for quality improvement have not been formally developed. Methods Using a grounded theory approach, emergency general surgery providers were recruited through purposive-criterion–based sampling to participate in semi-structured interviews and focus groups. Participants were asked to identify contributors to emergency general surgery outcomes, to define effective care for EGS patients, and to describe operating room team structure. Interviews were performed to thematic saturation. Transcripts were iteratively coded and analyzed within and across cases to identify emergent themes. Member checking was performed to establish credibility of the findings. Results A total of 40 participants from 5 academic hospitals participated in either individual interviews (n = 25 [9 anesthesia, 12 surgery, 4 nursing]) or focus groups (n = 2 [15 nursing]). Emergency general surgery was characterized by an exceptionally high level of variability, which can be subcategorized as patient-variability (acute physiology and comorbidities) and system-variability (operating room resources and workforce). Multidisciplinary communication is identified as a modifier to variability in emergency general surgery; however, nursing is often left out of early communication exchanges. Conclusion Critical variability in emergency general surgery may impact outcomes. Patient-variability and system-variability, with focus on multidisciplinary communication, represent potential domains for quality improvement in this field.
- Published
- 2018
8. Factors Associated With the Professional Success of Female Surgical Department Chairs
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Adam C. Fields, Jennifer S. Davids, Pamela Lu, Alexandra B. Columbus, Nelya Melnitchouk, and Susanna S. Hill
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Medical education ,business.industry ,education ,Psychological intervention ,030230 surgery ,humanities ,Grounded theory ,03 medical and health sciences ,0302 clinical medicine ,030220 oncology & carcinogenesis ,Facilitator ,Cohort ,Medicine ,Surgery ,Big Five personality traits ,business ,Original Investigation ,Qualitative research ,Diversity (business) ,Career development - Abstract
Importance Only 7% of US surgical department chairs are occupied by women. While the proportion of women in the surgical workforce continues to increase, women remain significantly underrepresented across leadership roles within surgery. Objective To identify commonality among female surgical chairs with attention toward moderators that appear to have contributed to their professional success. Design, Setting, and Participants A grounded theory qualitative study was conducted in academic surgical departments within the US. Participants included current and emeritus female chairs of American academic surgical departments. The study was conducted between December 1, 2018, and March 31, 2019. An eligible cohort of 26 women was identified. Interventions and Exposures Participants completed semistructured telephone interviews conducted with an interview guide. Main Outcomes and Measures Common themes associated with career success. Results Of the eligible cohort of 26 women, 20 individuals (77%) participated. Sixteen participants were serving as active department chairs and 4 were former department chairs. Mean (SD) length of time served in the chair position, either active or former, was calculated at 5.6 (2.6) years. Two major themes were identified. First, internal factors emerged prominently. Personality traits, including confidence, resilience, and selflessness, were shared among participants. Adaptability was described as a major facilitator to career success. Second, participants described 2 subtypes of external factors, overt and subtle, each of which included barriers and bolsters to career development. Overt support from mentors of both sexes was described as contributing to success. Subtle factors, such as gender norms, on institutional and cultural levels, affected behavior by creating environments that supported or detracted from career advancement. Conclusions and Relevance In this study, participants described both internal and external factors that have been associated with their advancement into leadership roles. Future attention toward encouraging intrinsic strengths, fostering environments that bolster career development, and emphasizing adaptability, along with work-system redesign, may be key components to career success and advancing diversity in surgical leadership roles.
- Published
- 2020
9. Risk stratification tools in emergency general surgery
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Joaquim M. Havens, Anupamaa J Seshadri, Nathan T. Mowery, Gail T. Tominaga, Marie Crandall, Alexandra B. Columbus, and Carlos V.R. Brown
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High rate ,medicine.medical_specialty ,business.industry ,General surgery ,Track and trigger ,Perioperative ,Review ,Critical Care and Intensive Care Medicine ,emergency general surgery ,Triage ,Surgical risk ,risk adjustment ,Emergency surgery ,Risk stratification ,medicine ,Surgery ,business ,Trauma scoring - Abstract
The use of risk stratification tools (RST) aids in clinical triage, decision making and quality assessment in a wide variety of medical fields. Although emergency general surgery (EGS) is characterized by a comorbid, physiologically acute patient population with disparately high rates of perioperative morbidity and mortality, few RST have been explicitly examined in this setting. We examined the available RST with the intent of identifying a tool that comprehensively reflects an EGS patients perioperative risk for death or complication. The ideal tool would combine individualized assessment with relative ease of use. Trauma Scoring Systems, Critical Care Scoring Systems, Surgical Scoring Systems and Track and Trigger Models are reviewed here, with the conclusion that Emergency Surgery Acuity Score and the American College of Surgeons National Surgical Quality Improvement Programme Universal Surgical Risk Calculator are the most applicable and appropriate for EGS.
- Published
- 2018
10. Sex Differences in Burnout and Barriers to Surgical Career Satisfaction
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Pamela Lu, Adam C. Fields, Nelya Melnitchouk, Alexandra B. Columbus, and Nancy L. Cho
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business.industry ,Medicine ,Surgery ,Burnout ,business ,Career satisfaction ,Clinical psychology - Published
- 2019
11. Hospital Factors Associated With Care Discontinuity Following Emergency General Surgery
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Wei Jiang, Thomas C. Tsai, Joaquim M. Havens, Ali Salim, Alexandra B. Columbus, Olubode A. Olufajo, Zara Cooper, and Stephanie Nitzschke
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Male ,medicine.medical_specialty ,MEDLINE ,Patient Readmission ,Health Services Accessibility ,03 medical and health sciences ,0302 clinical medicine ,Sex Factors ,Trauma Centers ,Hospital discharge ,Medicine ,Humans ,030212 general & internal medicine ,Continuum of care ,Hospitals, Teaching ,Survival rate ,Aged ,Retrospective Studies ,Aged, 80 and over ,business.industry ,General surgery ,Age Factors ,030208 emergency & critical care medicine ,Retrospective cohort study ,Common procedures ,Continuity of Patient Care ,Current analysis ,United States ,Survival Rate ,Hospital Bed Capacity ,General Surgery ,Surgical Procedures, Operative ,Emergency medicine ,Surgery ,Female ,Emergencies ,business ,Safety-net Providers ,Surgical patients - Abstract
Although there is evidence that changes in clinicians during the continuum of care (care discontinuity) are associated with higher mortality and complications among surgical patients, little is known regarding the drivers of care discontinuity among emergency general surgery (EGS) patients.To identify hospital factors associated with care discontinuity among EGS patients.We performed a retrospective analysis of the 100% Medicare inpatient claims file, from January 1, 2008, to November 30, 2011, and matched patient details to hospital information in the 2011 American Hospital Association Annual Survey database. We selected patients aged 65 years and older who had the most common procedures associated with the previously defined American Association for the Surgery of Trauma EGS diagnosis categories and survived to hospital discharge across the United States. The current analysis was conducted from February 1, 2016, to March 24, 2016.Care discontinuity defined as readmission within 30 days to nonindex hospitals.There were 109 443 EGS patients readmitted within 30 days of discharge and 20 396 (18.6%) were readmitted to nonindex hospitals. Of the readmitted patients, 61 340 (56%) were female. Care discontinuity was higher among patients who were male (19.5% vs 18.0%), those younger than 85 years old (19.0% vs 16.6%), and those who lived 12.8 km (8 miles) or more away from the index hospitals (23.7% vs 14.8%) (all P .001). Care discontinuity was independently associated with mortality (adjusted odds ratio [aOR], 1.16; 95% CI, 1.08-1.25). Hospital factors associated with care discontinuity included bed size of 200 or more (aOR, 1.45; 95% CI, 1.36-1.54), safety-net status (aOR, 1.35; 95% CI, 1.27-1.43), and teaching status (aOR, 1.18; 95% CI, 1.09-1.28). Care discontinuity was significantly lower among designated trauma centers (aOR, 0.89; 95% CI, 0.83-0.94) and highest among hospitals in the Midwest (aOR, 1.15; 95% CI, 1.05-1.26).Nearly 1 in 5 older EGS patients is readmitted to a hospital other than where their original procedure was performed. This care discontinuity is independently associated with mortality and is highest among EGS patients who are treated at large, teaching, safety-net hospitals. These data underscore the need for sustained efforts in increasing continuity of care among these hospitals and highlight the importance of accounting for these factors in risk-adjusted hospital comparisons.
- Published
- 2016
12. Inferring Palliative Intent From Administrative Data: Validation of a Claims-Based Case Definition for Venting Gastrostomy Tube
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Zara Cooper, Alexandra B. Columbus, and Elizabeth J. Lilley
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Male ,medicine.medical_specialty ,Parenteral Nutrition ,Palliative care ,medicine.medical_treatment ,Data validation ,Medical Records ,03 medical and health sciences ,0302 clinical medicine ,Neoplasms ,medicine ,Humans ,Registries ,Intensive care medicine ,General Nursing ,Aged ,Retrospective Studies ,Gastrostomy ,business.industry ,Palliative Care ,Neoplasms therapy ,Middle Aged ,medicine.disease ,Hospitalization ,Anesthesiology and Pain Medicine ,Multicenter study ,Gastrostomy tube ,030220 oncology & carcinogenesis ,Palliative intent ,030211 gastroenterology & hepatology ,Female ,Neurology (clinical) ,Medical emergency ,business ,Intestinal Obstruction - Published
- 2016
13. Malnutrition at Intensive Care Unit Admission Predicts Mortality in Emergency General Surgery Patients
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Olubode A. Olufajo, Kenneth B. Christopher, Alexandra B. Columbus, Ali Salim, James D. Rawn, Joaquim M. Havens, Anupamaa J Seshadri, and Kris M. Mogensen
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Male ,medicine.medical_specialty ,Protein–energy malnutrition ,Critical Care ,Medicine (miscellaneous) ,Logistic regression ,Patient Readmission ,law.invention ,Cohort Studies ,03 medical and health sciences ,0302 clinical medicine ,law ,Risk Factors ,Intensive care ,medicine ,Humans ,030212 general & internal medicine ,Hospital Mortality ,Aged ,Nutrition and Dietetics ,business.industry ,General surgery ,Malnutrition ,030208 emergency & critical care medicine ,Odds ratio ,Middle Aged ,medicine.disease ,Intensive care unit ,Hospitalization ,Intensive Care Units ,Surgical Procedures, Operative ,Cohort ,Observational study ,Female ,Emergencies ,business ,Boston - Abstract
Emergency general surgery (EGS) patients are at an increased risk for morbidity and mortality compared with non-EGS patients. Limited information exists regarding the contribution of malnutrition to the outcome of critically ill patients who undergo EGS. We hypothesized that malnutrition would be associated with increased risk of 90-day all-cause mortality following intensive care unit (ICU) admission in EGS patients.We performed an observational study of patients treated in medical and surgical ICUs at a single institution in Boston. We included patients who underwent an EGS procedure and received critical care between 2005 and 2011. The exposure of interest, malnutrition, was determined by a registered dietitian's formal assessment within 48 hours of ICU admission. The primary outcome was all-cause 90-day mortality. Adjusted odds ratios were estimated by multivariable logistic regression models.The cohort consisted of 1361 patients. Sixty percent had nonspecific malnutrition, 8% had protein-energy malnutrition, and 32% were without malnutrition. The 30-day readmission rate was 18.9%. Mortality in-hospital and at 90 days was 10.1% and 17.9%, respectively. Patients with nonspecific malnutrition had a 1.5-fold increased odds of 90-day mortality (adjusted odds ratio [OR], 1.51; 95% confidence interval [CI], 1.09-5.04; P = .009) and patients with protein-energy malnutrition had a 3.1-fold increased odds of 90-day mortality (adjusted OR, 3.06; 95% CI, 1.89-4.92; P.001) compared with patients without malnutrition.In critically ill patients who undergo EGS, malnutrition at ICU admission is predictive of adverse outcomes. In survivors of hospitalization, malnutrition at ICU admission is associated with increases in readmission and mortality.
- Published
- 2016
14. Association of Model for End-Stage Liver Disease Score With Mortality in Emergency General Surgery Patients
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Alexandra B. Columbus, Kenneth B. Christopher, Reza Askari, Ali Salim, Olubode A. Olufajo, and Joaquim M. Havens
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Adult ,Male ,medicine.medical_specialty ,Risk Assessment ,Severity of Illness Index ,law.invention ,End Stage Liver Disease ,03 medical and health sciences ,0302 clinical medicine ,Model for End-Stage Liver Disease ,Patient Admission ,Interquartile range ,law ,Severity of illness ,medicine ,Humans ,030212 general & internal medicine ,Elective surgery ,Aged ,Retrospective Studies ,business.industry ,General surgery ,030208 emergency & critical care medicine ,Retrospective cohort study ,Odds ratio ,Middle Aged ,medicine.disease ,Prognosis ,Comorbidity ,Intensive care unit ,Intensive Care Units ,General Surgery ,Surgical Procedures, Operative ,Chronic Disease ,Surgery ,Female ,Emergencies ,business - Abstract
Importance Emergency general surgery (EGS) patients have a disproportionate burden of death and complications. Chronic liver disease (CLD) increases the risk of complications following elective surgery. For EGS patients with CLD, long-term outcomes are unknown and risk stratification models do not reflect severity of CLD. Objective To determine whether the Model for End-Stage Liver Disease (MELD) score is associated with increased risk of 90-day mortality following intensive care unit (ICU) admission in EGS patients. Design, Setting, and Participants We performed a retrospective cohort study of patients with CLD who underwent an EGS procedure based on International Classification of Diseases, Ninth Revision ( ICD-9 ) procedure codes and were admitted to a medical or surgical ICU within 48 hours of surgery between January 1, 1998, and September 20, 2012, at 2 academic medical centers. Chronic liver disease was identified using ICD-9 codes. Multivariable logistic regression was performed. The analysis was conducted from July 1, 2015, to January 1, 2016. Main Outcomes and Measures The primary outcome was all-cause 90-day mortality. Results A total of 13 552 EGS patients received critical care; of these, 707 (5%) (mean [SD] age at hospital admission, 56.6 [14.2] years; 64% male; 79% white) had CLD and data to determine MELD score at ICU admission. The median MELD score was 14 (interquartile range, 10-20). Overall 90-day mortality was 30.1%. The adjusted odds ratio of 90-day mortality for each 10-point increase in MELD score was 1.63 (95% CI, 1.34-1.98). A decrease in MELD score of more than 3 in the 48 hours following ICU admission was associated with a 2.2-fold decrease in 90-day mortality (odds ratio = 0.46; 95% CI, 0.22-0.98). Conclusions and Relevance In this study, MELD score was associated with 90-day mortality following EGS in patients with CLD. The MELD score can be used as a prognostic factor in this patient population and should be used in preoperative risk prediction models and when counseling EGS patients on the risks and benefits of operative intervention.
- Published
- 2016
15. Autosomal recessive inheritance of classic Bethlem myopathy
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Carsten G. Bönnemann, Alexandra B. Columbus, Diane M. Dunn, A. Reghan Foley, Robert B. Weiss, Yaqun Zou, John Shoffner, and Ying Hu
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Adult ,Male ,Heterozygote ,Ullrich congenital muscular dystrophy ,Molecular Sequence Data ,Mutation, Missense ,Genes, Recessive ,Collagen Type VI ,Biology ,Compound heterozygosity ,Article ,Exon ,Muscular Diseases ,Collagen VI ,medicine ,Humans ,Missense mutation ,Amino Acid Sequence ,Allele ,Genetics (clinical) ,Sequence Deletion ,Genetics ,Sequence Homology, Amino Acid ,Bethlem myopathy ,Dermis ,Exons ,Fibroblasts ,medicine.disease ,Exon skipping ,Pedigree ,Phenotype ,Neurology ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) - Abstract
Mutations in the collagen VI genes (COL6A1, COL6A2 and COL6A3) result in Ullrich congenital muscular dystrophy (CMD), Bethlem myopathy or phenotypes intermediate between Ullrich CMD and Bethlem myopathy. While Ullrich CMD can be caused by either recessively or dominantly acting mutations, Bethlem myopathy has thus far been described as an exclusively autosomal dominant condition. We report two adult siblings with classic Bethlem myopathy who are compound heterozygous for a single nucleotide deletion (exon 23; c.1770delG), leading to in-frame skipping of exon 23 on the maternal allele, and a missense mutation p.R830W in exon 28 on the paternal allele. The parents are carriers of the respective mutations and are clinically unaffected. The exon skipping mutation in exon 23 results in a chain incapable of heterotrimeric assembly, while p.R830W likely ameliorates the phenotype into the Bethlem range. Thus, autosomal recessive inheritance can also underlie Bethlem myopathy, supporting the notion that Ullrich CMD and Bethlem myopathy are part of a common clinical and genetic spectrum.
- Published
- 2009
16. Explaining the excess morbidity of emergency general surgery: packed red blood cell and fresh frozen plasma transfusion practices are associated with major complications in nonmassively transfused patients
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Gally Reznor, Woo S. Do, Edward J. Kelly, Zara Cooper, Tomaz Mesar, Jonathan D. Gates, Alexandra B. Columbus, Haytham M.A. Kaafarani, Reza Askari, Ali Salim, Adil H. Haider, and Joaquim M. Havens
- Subjects
Adult ,Male ,medicine.medical_specialty ,Blood Loss, Surgical ,Fresh frozen plasma transfusion ,03 medical and health sciences ,Plasma ,0302 clinical medicine ,Postoperative Complications ,Blood product ,Risk Factors ,medicine ,Humans ,Major complication ,Aged ,Retrospective Studies ,business.industry ,General surgery ,030208 emergency & critical care medicine ,Retrospective cohort study ,General Medicine ,Odds ratio ,Stepwise regression ,Middle Aged ,Confidence interval ,Red blood cell ,medicine.anatomical_structure ,030220 oncology & carcinogenesis ,General Surgery ,Surgery ,Female ,Emergencies ,business ,Erythrocyte Transfusion ,Boston - Abstract
Background Intraoperative blood product transfusions carry risk but are often necessary in emergency general surgery (EGS). Methods We queried the American College of Surgery-National Surgical Quality Improvement Program database for EGS patients (2008 to 2012) at 2 tertiary academic hospitals. Outcomes included rates of high packed red blood cell (pRBC) use (estimated blood loss:pRBC 1:1.5). Patients were then stratified by exposure to high blood product use. Stepwise logistic regression was performed. Results Of 992 patients, 33% underwent EGS. Estimated blood loss was similar between EGS and non-EGS (282 vs 250 cc, P = .288). EGS patients were more often exposed to high pRBC use (adjusted odds ratio [OR] = 2.01, 95% confidence interval [CI] = 1.11 to 3.66) and high-FFP use (OR = 2.75, 95% CI: = 1.10 to 6.84). High blood product use was independently associated with major nonbleeding complications (high pRBC: OR = 1.73, 95% CI = 1.04 to 2.91; high FFP: OR = 2.15, 95% CI = 1.15 to 4.02). Conclusions Despite similar blood loss, EGS patients received higher rates of intraoperative blood product transfusion, which was independently associated with major complication.
- Published
- 2015
17. Discontinuity of Patient-Provider Communication throughout the Phases of Care: Time to Be More Patient-Centered in Trauma?
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Arturo J. Rios-Diaz, Juan P. Herrera-Escobar, Christina Weed, Haytham M. Kaafara, Ali Salim, Alexandra B. Columbus, Manuel Castillo-Angeles, Adil H. Haider, George C. Velmahos, and George Kasotakis
- Subjects
medicine.medical_specialty ,Discontinuity (geotechnical engineering) ,business.industry ,medicine ,Surgery ,Medical emergency ,medicine.disease ,Psychiatry ,business ,Patient centered - Published
- 2017
18. Mary H. Gibbon: Teamwork of the Heart
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Stacey A. Milan, Scott W. Cowan, Charles J. Yeo, and Alexandra B. Columbus
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Teamwork ,medicine.medical_specialty ,Heart-Lung Machine ,business.industry ,media_common.quotation_subject ,Extracorporeal circulation ,Medicine ,General Medicine ,business ,Intensive care medicine ,media_common - Published
- 2014
19. Familial reducing body myopathy with cytoplasmic bodies and rigid spine revisited: identification of a second LIM domain mutation in FHL1
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Carsten G. Bönnemann, Alexandra B. Columbus, Joachim Schessl, Thomas Voit, Ying Hu, Yaqun Zou, and Hans-Hilmar Goebel
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Adult ,Male ,Pathology ,medicine.medical_specialty ,Weakness ,Cytoplasm ,media_common.quotation_subject ,Muscle Proteins ,medicine.disease_cause ,Asymptomatic ,Muscular Diseases ,Germany ,medicine ,Humans ,Genetic Predisposition to Disease ,Myopathy ,Muscle, Skeletal ,media_common ,Family Health ,Mutation ,Daughter ,Muscle biopsy ,medicine.diagnostic_test ,business.industry ,Intracellular Signaling Peptides and Proteins ,General Medicine ,LIM Domain Proteins ,Middle Aged ,FHL1 ,Pediatrics, Perinatology and Child Health ,Female ,Neurology (clinical) ,medicine.symptom ,business ,Aunt - Abstract
Objective: Reducing body myopathy (RBM) is a rare progressive disorder of muscle characterized by intracytoplasmic inclusions, which stain strongly with menadione-NBT (nitroblue tetrazolium). We recently identified the four and a half LIM domain gene FHL1 located on chromosome Xq26 as the causative gene for RBM. So far eight familial cases and 21 sporadic patients with RBM have been reported in the literature. Methods: We ascertained a total of 8 members of a German family initially reported by Goebel et al. as a mixed myopathy with rigid spine myopathy and reducing as well as cytoplasmic bodies. Clinical findings in the original and additional family members have been reviewed. Mutation detection was performed by direct sequencing of FHL1 exons. Results: We identified a novel mutation (p.C150R) in the second LIM domain of FHL1 in six family members (1 male, 5 females). The male index patient was the most affected member presenting with rigid spine, followed by rapidly progressive muscle weakness. He died from the consequences of respiratory insufficiency at the age of 29.5 years. His sister, mother, grandmother, aunt and female cousin all carried the mutation in the heterozygous state. The sister is clinically unaffected; their mother had myopathic changes in her muscle biopsy, while the grandmother showed first signs of weakness at 50 years of age. The 54-year-old aunt and her daughter are clinically asymptomatic. Conclusion: We report a novel LIM2 domain mutation in FHL1 in a previously reported family with RBM with cytoplasmic bodies and spinal rigidity. While the male index patient was significantly affected, female carriers show varying manifestations and may be asymptomatic, likely reflecting varying degrees of X-inactivation. RBM continues to be associated with mutations in the LIM2 domain of FHL1. We also confirm our earlier observation that mutations at the N-terminal end of the LIM2 domain seem to be milder compared to mutations seen at the C-terminal part of the domain which cause severe disease even in female carriers.
- Published
- 2010
20. G.P.5.10 Novel FHL1 mutation in familial mixed reducing body myopathy with rigid spine
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Carsten G. Bönnemann, Ying Hu, Yaqun Zou, J. Schessl, Thomas Voit, Alexandra B. Columbus, and Hans-Hilmar Goebel
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medicine.medical_specialty ,business.industry ,Rigid spine ,FHL1 ,Reducing body myopathy ,Endocrinology ,Neurology ,Internal medicine ,Pediatrics, Perinatology and Child Health ,Mutation (genetic algorithm) ,medicine ,Neurology (clinical) ,business ,Genetics (clinical) - Published
- 2009
21. EM.P.4.01 Collagen VI related myopathies: Exploring the phenotypic spectrum
- Author
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A. Connolly, Richard S. Finkel, Petra Kaufmann, M. Scavina, A.R. Foley, J. Schlessl, Ying Hu, Carsten G. Bönnemann, Robert B. Weiss, Brenda Wong, Susan T. Iannaccone, Kevin M. Flanigan, Yaqun Zou, Katherine D. Mathews, and Alexandra B. Columbus
- Subjects
Neurology ,Collagen VI ,Chemistry ,Pediatrics, Perinatology and Child Health ,Neurology (clinical) ,Phenotype ,Molecular biology ,Genetics (clinical) - Published
- 2009
Catalog
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