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1.
Artigo em Inglês | MEDLINE | ID: mdl-33877912

RESUMO

Background: We sought to assess the efficacy of prophylactic abdominal drainage to prevent complications after appendectomy for perforated appendicitis. Methods: In this post hoc analysis of a prospective multi-center study of appendicitis in adults (≥ 18 years), we included patients with perforated appendicitis diagnosed intra-operatively. The 634 subjects were divided into groups on the basis of receipt of prophylactic drains. The demographics and outcomes analyzed were surgical site infection (SSI), intra-abdominal abscess (IAA), Clavien-Dindo complications, secondary interventions, and hospital length of stay (LOS). Multivariable logistic regression for the cumulative 30-day incidence of IAA was performed controlling for age, Charlson Comorbidity Index (CCI), antibiotic duration, presence of drains, and Operative American Association for the Surgery of Trauma (AAST) Grade. Results: In comparing the Drain (n = 159) versus No-Drain (n = 475) groups, there was no difference in the frequency of male gender (61% versus 55%; p = 0.168), weight (87.9 ± 27.9 versus 83.8 ± 23.4 kg; p = 0.071), Alvarado score (7 [6-8] versus 7 [6-8]; p = 0.591), white blood cell (WBC) count (14.8 ± 4.8 versus 14.9 ± 4.5; p = 0.867), or CCI (1 [0-3] versus 1 [0-2]; p = 0.113). The Drain group was significantly older (51 ± 16 versus 48 ± 17 years; p = 0.017). Drain use increased as AAST EGS Appendicitis Operative Severity Grade increased: Grade 3 (62/311; 20%), Grade 4 (46/168; 27%), and Grade 5 (51/155; 33%); p = 0.007. For index hospitalization, the Drain group had a higher complication rate (43% versus 28%; p = 0.001) and longer LOS (4 [3-7] versus 3 [1-5] days; p < 0.001). We could not detect a difference between the groups in the incidence of SSI, IAA, or secondary interventions. There was no difference in 30-day emergency department visits, re-admissions, or secondary interventions. Multi-variable logistic regression showed that only AAST Grade (odds ratio 2.7; 95% confidence interval7 1.5-4.7; p = 0.001) was predictive of the cumulative 30-day incidence of IAA. Conclusions: Prophylactic drainage after appendectomy for perforated appendicitis in adults is not associated with fewer intra-abdominal abscesses but is associated with longer hospital LOS. Increasing AAST EGS Appendicitis Operative Grade is a strong predictor of intra-abdominal abscess.

2.
J Trauma Acute Care Surg ; 90(3): 557-564, 2021 03 01.
Artigo em Inglês | MEDLINE | ID: mdl-33507026

RESUMO

BACKGROUND: The Emergency Surgery Score (ESS) was recently validated as an accurate mortality risk calculator for emergency general surgery. We sought to prospectively evaluate whether ESS can predict the need for respiratory and/or renal support (RRS) at discharge after emergent laparotomies (EL). METHODS: This is a post hoc analysis of a 19-center prospective observational study. Between April 2018 and June 2019, all adult patients undergoing EL were enrolled. Preoperative, intraoperative, and postoperative variables were systematically collected. In this analysis, patients were excluded if they died during the index hospitalization, were discharged to hospice, or transferred to other hospitals. A composite variable, the need for RRS, was defined as the need for one or more of the following at hospital discharge: tracheostomy, ventilator dependence, or dialysis. Emergency Surgery Score was calculated for all patients, and the correlation between ESS and RRS was examined using the c-statistics method. RESULTS: From a total of 1,649 patients, 1,347 were included. Median age was 60 years, 49.4% were men, and 70.9% were White. The most common diagnoses were hollow viscus organ perforation (28.1%) and small bowel obstruction (24.5%); 87 patients (6.5%) had a need for RRS (4.7% tracheostomy, 2.7% dialysis, and 1.3% ventilator dependence). Emergency Surgery Score predicted the need for RRS in a stepwise fashion; for example, 0.7%, 26.2%, and 85.7% of patients required RRS at an ESS of 2, 12, and 16, respectively. The c-statistics for the need for RRS, the need for tracheostomy, ventilator dependence, or dialysis at discharge were 0.84, 0.82, 0.79, and 0.88, respectively. CONCLUSION: Emergency Surgery Score accurately predicts the need for RRS at discharge in EL patients and could be used for preoperative patient counseling and for quality of care benchmarking. LEVEL OF EVIDENCE: Prognostic and epidemiological, level III.


Assuntos
Serviço Hospitalar de Emergência , Hospitalização , Laparotomia/efeitos adversos , Complicações Pós-Operatórias/epidemiologia , Diálise Renal , Respiração Artificial , Idoso , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Determinação de Necessidades de Cuidados de Saúde , Complicações Pós-Operatórias/terapia , Valor Preditivo dos Testes , Medição de Risco
3.
J Trauma Acute Care Surg ; 89(6): 1023-1031, 2020 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-32890337

RESUMO

OBJECTIVE: Evidence comparing stoma creation (STM) versus anastomosis after urgent or emergent colorectal resection is limited. This study examined outcomes after colorectal resection in emergency general surgery patients. METHODS: This was an Eastern Association for the Surgery of Trauma-sponsored prospective observational multicenter study of patients undergoing urgent/emergent colorectal resection. Twenty-one centers enrolled patients for 11 months. Preoperative, intraoperative, and postoperative variables were recorded. χ, Mann-Whitney U test, and multivariable logistic regression models were used to describe outcomes and risk factors for surgical complication/mortality. RESULTS: A total of 439 patients were enrolled (ANST, 184; STM, 255). The median (interquartile range) age was 62 (53-71) years, and the median Charlson Comorbidity Index (CCI) was 4 (1-6). The most common indication for surgery was diverticulitis (28%). Stoma group was older (64 vs. 58 years, p < 0.001), had a higher CCI, and were more likely to be immunosuppressed. Preoperatively, STM patients were more likely to be intubated (57 vs. 15, p < 0.001), on vasopressors (61 vs. 13, p < 0.001), have pneumoperitoneum (131 vs. 41, p < 0.001) or fecal contamination (114 vs. 33, p < 0.001), and had a higher incidence of elevated lactate (149 vs. 67, p < 0.001). Overall mortality was 13%, which was higher in STM patients (18% vs. 8%, p = 0.02). Surgical complications were more common in STM patients (35% vs. 25%, p = 0.02). On multivariable analysis, management with an open abdomen, intraoperative blood transfusion, and larger hospital size were associated with development of a surgical complication, while CCI, preoperative vasopressor use, steroid use, open abdomen, and intraoperative blood transfusion were independently associated with mortality. CONCLUSION: This study highlights a tendency to perform fecal diversion in patients who are acutely ill at presentation. There is a higher morbidity and mortality rate in STM patients. Independent predictors of mortality include CCI, preoperative vasopressor use, steroid use, open abdomen, and intraoperative blood transfusion. Following adjustment by clinical factors, method of colon management was not associated with surgical complications or mortality. LEVEL OF EVIDENCE: Therapeutic study, level IV.

4.
Artigo em Inglês | MEDLINE | ID: mdl-32897168

RESUMO

Background: The post-operative management of simple (acute) appendicitis differs throughout the United States. Guidelines regarding post-operative antibiotic usage remain unclear, and treatment generally is dictated by surgeon preference. We hypothesize that post-operative antibiotic use for simple appendicitis is not associated with lower post-operative complication rates. Methods: In a post-hoc analysis in a large multi-center observational study, only patients with an intra-operative diagnosis of AAST EGS Grade I were included. Subjects were classified into those receiving post-operative antibiotics (POST) and those given pre-operative antibiotics only (NONE). Clinical outcomes examined were length of stay (LOS), 30-day emergency department (ED) visits and hospital re-admissions, secondary interventions, surgical site infection (SSI), and intra-abdominal abscess (IAA). Results: A total of 2,191 subjects were included, of whom 612 (28%) received post-operative antibiotics. Compared with the NONE group, POST patients were older (age 37 [range 26-50] versus 33 [26-46] years; p < 0.001), weighed more (82 [70-96] versus 79 [68-93] kg (p = 0.038), and had higher white blood cell counts (13.5 ± 4.2 versus 13.1 ± 4.4/103/mcL (p = 0.046), Alvarado Scores (6 [5-7] versus 6 [5-7]; p < 0.001), and Charlson Comorbidity Indices (median score 0 in both cohorts; p < 0.001). The POST patients had a longer LOS (1 [1-2] versus 1 [1-1] days; p < 0.001). There were no differences in the number who had ED visits within 30 days (9% versus 8%; p = 0.435), hospital re-admission (4% versus 2%; p = 0.165), an index hospitalization SSI (0.2% for both cohorts; p = 0.69), an SSI within 30 days (4% versus 2%; p = 0.165), index hospitalization IAA rate (0.3% versus 0.1%; p = 0.190), 30-day IAA (2% versus 1%; p = 0.71), index hospitalization interventions (0.5% versus 0.1%; p = 0.137) or 30-day secondary interventions (2% versus 1%; p = 0.155). Conclusions: Post-operative antibiotic use after appendectomy for simple appendicitis is not associated with better post-operative clinical outcomes at index hospitalization or at 30 days after discharge.

5.
Am J Surg ; 2020 Sep 04.
Artigo em Inglês | MEDLINE | ID: mdl-32917366

RESUMO

INTRODUCTION: We sought to evaluate whether the Emergency Surgery Score (ESS) can accurately predict outcomes in elderly patients undergoing emergent laparotomy (EL). METHODS: This is a post-hoc analysis of an EAST multicenter study. Between April 2018 and June 2019, all adult patients undergoing EL in 19 participating hospitals were prospectively enrolled, and ESS was calculated for each patient. Using the c-statistic, the correlation between ESS and mortality, morbidity, and need for ICU admission was assessed in three patient age cohorts (65-74, 75-84, ≥85 years old). RESULTS: 715 patients were included, of which 52% were 65-74, 34% were 75-84, and 14% were ≥85 years old; 51% were female, and 77% were white. ESS strongly correlated with postoperative mortality (c-statistic:0.81). Mortality gradually increased from 0% to 20%-60% at ESS of 2, 10 and 16 points, respectively. ESS predicted mortality, morbidity, and need for ICU best in patients 65-74 years old (c-statistic:0.81, 0.75, 0.83 respectively), but its performance significantly decreased in patients ≥85 years (c-statistic:0.72, 0.64, 0.67 respectively). CONCLUSION: ESS is an accurate predictor of outcome in the elderly EL patient 65-85 years old, but its performance decreases for patients ≥85. Consideration should be given to modify ESS to better predict outcomes in the very elderly patient population.

6.
Surgery ; 168(4): 701-706, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32739139

RESUMO

BACKGROUND: The incidence of underlying malignancy in appendicitis ranges between 0.5% and 1.7%. We sought to identify the subset of patients with appendicitis who are at increased risk of appendiceal malignancy. METHODS: Using the Eastern Association for the Surgery of Trauma Multicenter Study of the Treatment of Appendicitis in America: Acute, Perforated, and Gangrenous database, we included all patients from 28 centers undergoing immediate, delayed, or interval appendectomy between 2017 and 2018. Univariate then multivariable analyses were performed to compare patients with and without malignancy and to identify independent demographic, clinical, laboratory, and/or radiological predictors of malignancy. Akaike information criteria for regression models were used to evaluate goodness of fit. RESULTS: A total of 3,293 patients were included. The median age was 38 (27-53) years, and 46.5% were female patients. On pathology, 48 (1.5%) had an underlying malignancy (adenocarcinoma [60.4%], neuroendocrine [37.5%], and lymphoma [2.1%]). Patients with malignancy were older (56 [34.5-67] vs 37 [27-52] years, P < .001), had longer duration of symptoms before presentation (36-41 vs 18-23 hours, P = .03), and were more likely to have a phlegmon on imaging (6.3% vs 1.3%, P = .03). Multivariable analyses showed that an enlarged appendiceal diameter was independently associated with malignancy (odds ratio = 1.06, 95% confidence interval = 1.01-1.12; P = .01). The incidence of malignancy in patients >40 years with an appendiceal diameter >10 mm on computed tomography was 2.95% compared with 0.97% in patients ≤40 years old with appendiceal diameter ≤10 mm. The corresponding risk ratio for that population was 3.03 (95% confidence interval: 1.24-7.42; P = .02). CONCLUSION: The combination of age >40 and an appendiceal diameter >10 mm is associated with a greater than 3-fold increased risk of malignancy in patients presenting with appendicitis.


Assuntos
Neoplasias do Apêndice/diagnóstico por imagem , Apendicite/patologia , Apêndice/patologia , Adulto , Fatores Etários , Apendicectomia , Apendicite/diagnóstico por imagem , Apendicite/cirurgia , Apêndice/diagnóstico por imagem , Apêndice/cirurgia , Celulite (Flegmão)/diagnóstico por imagem , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores de Risco , Tomografia Computadorizada por Raios X
7.
BMC Med Imaging ; 20(1): 86, 2020 07 29.
Artigo em Inglês | MEDLINE | ID: mdl-32727387

RESUMO

BACKGROUND: BRCA1/2 deleterious variants account for most of the hereditary breast and ovarian cancer cases. Prediction models and guidelines for the assessment of genetic risk rely heavily on criteria with high variability such as family cancer history. Here we investigated the efficacy of MRI (magnetic resonance imaging) texture features as a predictor for BRCA mutation status. METHODS: A total of 41 female breast cancer individuals at high genetic risk, sixteen with a BRCA1/2 pathogenic variant and twenty five controls were included. From each MRI 4225 computer-extracted voxels were analyzed. Non-imaging features including clinical, family cancer history variables and triple negative receptor status (TNBC) were complementarily used. Lasso-principal component regression (L-PCR) analysis was implemented to compare the predictive performance, assessed as area under the curve (AUC), when imaging features were used, and lasso logistic regression or conventional logistic regression for the remaining analyses. RESULTS: Lasso-selected imaging principal components showed the highest predictive value (AUC 0.86), surpassing family cancer history. Clinical variables comprising age at disease onset and bilateral breast cancer yielded a relatively poor AUC (~ 0.56). Combination of imaging with the non-imaging variables led to an improvement of predictive performance in all analyses, with TNBC along with the imaging components yielding the highest AUC (0.94). Replacing family history variables with imaging components yielded an improvement of classification performance of ~ 4%, suggesting that imaging compensates the predictive information arising from family cancer structure. CONCLUSIONS: The L-PCR model uncovered evidence for the utility of MRI texture features in distinguishing between BRCA1/2 positive and negative high-risk breast cancer individuals, which may suggest value to diagnostic routine. Integration of computer-extracted texture analysis from MRI modalities in prediction models and inclusion criteria might play a role in reducing false positives or missed cases especially when established risk variables such as family history are missing.

8.
Mod Pathol ; 33(11): 2341-2353, 2020 11.
Artigo em Inglês | MEDLINE | ID: mdl-32612247

RESUMO

Uterine leiomyomas (ULs) constitute a considerable health burden in the general female population. The fumarate hydratase (FH) deficient subtype is found in up to 1.6% and can occur in hereditary leiomyomatosis and renal cell carcinoma (HLRCC) syndrome. We sequenced 13 FH deficient ULs from a previous immunohistochemical screen using a targeted panel and identified biallelic FH variants in all. In eight, we found an FH point mutation (two truncating, six missense) with evidence for loss of the second allele. Variant allele-frequencies in all cases with a point mutation pointed to somatic variants. Spatial clustering of the identified missense variants in the lyase domain indicated altered fumarase oligomerization with subsequent degradation as explanation for the observed FH deficiency. Biallelic FH deletions in five tumors confirm the importance of copy number loss as mutational mechanism. By curating all pathogenic FH variants and calculating their population frequency, we estimate a carrier frequency of up to 1/2,563. Comparing with the prevalence of FH deficient ULs, we conclude that most are sporadic and estimate 2.7-13.9% of females with an FH deficient UL to carry a germline FH variant. Further prospective tumor/normal sequencing studies are needed to develop a reliable screening strategy for HLRCC in women with ULs.

9.
Artigo em Inglês | MEDLINE | ID: mdl-32562287

RESUMO

BACKGROUND: Classic experiments demonstrating hypermetabolism after major trauma were performed in a different era of critical care. We aim to describe the modern posttraumatic metabolic response in the trauma intensive care unit (TICU). METHODS: This prospective observational study enrolled TICU mechanically ventilated adults (aged ≥18) from 3/2018-2/2019. Multiple, daily resting energy expenditure (REE) measurements were recorded. Basal energy expenditure (BEE) was calculated by the Harris-Benedict equation. Hypometabolism was defined as average daily REE < 0.85*BEE and hypermetabolism defined as average daily REE > 1.15*BEE. Demographics, interventions, and clinical outcomes were abstracted. Descriptive statistics and multivariable logistical regression models evaluating demographics with the outcome variable of hypermetabolism for the first 3 days ("sustained hypermetabolism") were performed, along with group-based trajectory modeling (GBTM). RESULTS: Fifty-five patients were analyzed: median age was 38 (28-56) years; 38 (69%) were male; body mass index (kg/m2 ) was 28 (26-32); and Injury Severity Score was 27 (19-34), with (38 [71%] blunt, 8 [15%] penetrating, 7 [13%] burn) injury mechanism. Overall, 19 (35%) had hypermetabolism on day 1 ("immediate hypermetabolism"), and 11 (21%) had sustained hypermetabolism for the first 3 days. Logistic regression analysis identified penetrating mechanism (adjusted odds ratio [AOR], 16.4; 95% CI, 1.9-199.6; p = .015), burn mechanism (AOR, 11.1; 95% CI, 1.3-116.8; p =.029), and maximum temperature (AOR, 4.2; 95% CI, 1.3-20.3; p= .041) as independent predictors of sustained hypermetabolism. GBTM identified 4 nutrition phenotypes, with 2 hyperconsumptive phenotypes associated with increased risk of malnutrition at discharge. CONCLUSION: Only a minority of injured patients is hypermetabolic in the first week after injury. Elevated temperature, penetrating mechanism, and burn mechanism are independently associated with sustained hypermetabolism. Hyperconsumptive phenotype patients are more likely to develop malnutrition during hospitalization.

10.
J Surg Res ; 254: 217-222, 2020 10.
Artigo em Inglês | MEDLINE | ID: mdl-32474194

RESUMO

BACKGROUND: We sought to compare the effectiveness of narrow- versus broad-spectrum antibiotics (abx) in preventing infectious complications in adults with acute appendicitis treated with appendectomy. METHODS: In this post hoc analysis of a prospective multicenter observational study of appendicitis in adults (≥18 y) conducted from January 2017 to June 2018, we included only patients with simple appendicitis. Subjects were grouped based on receipt of broad-spectrum or narrow-spectrum abx before and/or after appendectomy. Outcomes compared were surgical site infection, intra-abdominal abscess, secondary interventions (percutaneous drainage or operation), emergency department (ED) visits, 30-d readmission, and hospital length of stay. RESULTS: A total of 2336 subjects were analyzed. In comparing narrow (n = 778) versus broad (n = 1558) groups, there were no differences in male sex (53% versus 54%, P = 0.704), white blood cell (13.0 ± 3.9 versus 13.4 ± 4.5, P = 0.05), Alvarado score (6 [5-7] versus 6 [5-7], P = 0.25), or Charlson comorbidity index (0 [0-1] versus 0 [0-1], P = 0.09). A total of 688 (29%) received postoperative abx, [184 (24%) narrow and 504 (32%) broad, P < 0.001] for a median 5 [2-7] d [42 (23%) narrow and 235 (47%) broad, P < 0.001]. There were no significant differences between narrow and broad groups in surgical site infection, intra-abdominal abscess, secondary interventions, ED visits, or hospital readmissions. CONCLUSIONS: Significant practice variation in duration and spectrum of antibiotic adjunct for surgical treatment of simple acute appendicitis treatment is evident, and broad-spectrum abx did not offer clinical advantages over narrow-spectrum abx. Restriction of antibiotic spectrum should be considered, although randomized trials are required to overcome selection bias.


Assuntos
Antibacterianos/uso terapêutico , Apendicite/tratamento farmacológico , Adulto , Apendicectomia , Apendicite/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
11.
J Trauma Acute Care Surg ; 89(1): 118-124, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-32176177

RESUMO

BACKGROUND: The Emergency Surgery Score (ESS) was recently developed and retrospectively validated as an accurate mortality risk calculator for emergency general surgery. We sought to prospectively validate ESS, specifically in the high-risk nontrauma emergency laparotomy (EL) patient. METHODS: This is an Eastern Association for the Surgery of Trauma multicenter prospective observational study. Between April 2018 and June 2019, 19 centers enrolled all adults (aged >18 years) undergoing EL. Preoperative, intraoperative, and postoperative variables were prospectively and systematically collected. Emergency Surgery Score was calculated for each patient and validated using c-statistic methodology by correlating it with three postoperative outcomes: (1) 30-day mortality, (2) 30-day complications (e.g., respiratory/renal failure, infection), and (3) postoperative intensive care unit (ICU) admission. RESULTS: A total of 1,649 patients were included. The mean age was 60.5 years, 50.3% were female, and 71.4% were white. The mean ESS was 6, and the most common indication for EL was hollow viscus perforation. The 30-day mortality and complication rates were 14.8% and 53.3%; 57.0% of patients required ICU admission. Emergency Surgery Score gradually and accurately predicted 30-day mortality; 3.5%, 50.0%, and 85.7% of patients with ESS of 3, 12, and 17 died after surgery, respectively, with a c-statistic of 0.84. Similarly, ESS gradually and accurately predicted complications; 21.0%, 57.1%, and 88.9% of patients with ESS of 1, 6, and 13 developed postoperative complications, with a c-statistic of 0.74. Emergency Surgery Score also accurately predicted which patients required intensive care unit admission (c-statistic, 0.80). CONCLUSION: This is the first prospective multicenter study to validate ESS as an accurate predictor of outcome in the EL patient. Emergency Surgery Score can prove useful for (1) perioperative patient and family counseling, (2) triaging patients to the intensive care unit, and (3) benchmarking the quality of emergency general surgery care. LEVEL OF EVIDENCE: Prognostic study, level III.


Assuntos
Emergências , Cirurgia Geral , Medição de Risco/métodos , Ferimentos e Lesões/cirurgia , Adulto , Idoso , Feminino , Mortalidade Hospitalar , Humanos , Unidades de Terapia Intensiva/estatística & dados numéricos , Masculino , Pessoa de Meia-Idade , Complicações Pós-Operatórias/mortalidade , Pontuação de Propensão , Estudos Prospectivos , Ferimentos e Lesões/mortalidade
12.
J Surg Res ; 245: 163-167, 2020 01.
Artigo em Inglês | MEDLINE | ID: mdl-31419641

RESUMO

BACKGROUND: The Advanced Trauma Life Support (ATLS) shock classification has been accepted as the conceptual framework for clinicians caring for trauma patients. We sought to validate its ability to predict mortality, blood transfusion, and urgent intervention. MATERIALS AND METHODS: We performed a retrospective review of trauma patients using the 2014 National Trauma Data Bank. Using initial vital signs data, patients were categorized into shock class based on the ATLS program. Rates for urgent blood transfusion, urgent operative intervention, and mortality were compared between classes. RESULTS: 630,635 subjects were included for analysis. Classes 1, 2, 3, and 4 included 312,404, 17,133, 31, and 43 patients, respectively. 300,754 patients did not meet criteria for any ATLS shock class. Of the patients in class 1 shock, 2653 died (0.9%), 3123 (1.0%) were transfused blood products, and 7115 (2.3%) underwent an urgent procedure. In class 2, 219 (1.3%) died, 387 (2.3%) were transfused, and 1575 (9.2%) underwent intervention. In class 3, 7 (22.6%) died, 10 (32.3%) were transfused, and 13 (41.9%) underwent intervention. In class 4, 15 (34.9%) died, 19 (44.2%) were transfused, and 23 (53.5%) underwent intervention. For uncategorized patients, 21,356 (7.1%) died, 15,168 (5.0%) were transfused, and 23,844 (7.9%) underwent intervention. CONCLUSIONS: Almost half of trauma patients do not meet criteria for any ATLS shock class. Uncategorized patients had a higher mortality (7.1%) than patients in classes 1 and 2 (0.9% and 1.3%, respectively). Classes 3 and 4 only accounted for 0.005% and 0.007%, respectively, of patients. The ATLS classification system does not help identify many patients in severe shock.


Assuntos
Cuidados de Suporte Avançado de Vida no Trauma/normas , Medição de Risco/métodos , Choque/classificação , Índices de Gravidade do Trauma , Ferimentos e Lesões/complicações , Adulto , Idoso , Transfusão de Sangue/estatística & dados numéricos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Sistema de Registros/estatística & dados numéricos , Estudos Retrospectivos , Choque/diagnóstico , Choque/etiologia , Choque/mortalidade , Análise de Sobrevida , Ferimentos e Lesões/diagnóstico , Ferimentos e Lesões/mortalidade , Ferimentos e Lesões/terapia , Adulto Jovem
13.
Surg Infect (Larchmt) ; 21(3): 205-211, 2020 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-31687887

RESUMO

Objective: To compare the presentation, management, and outcomes of appendicitis in pregnant and non-pregnant females of childbearing age (18-45 years). Methods: This was a post-hoc analysis of a prospectively collected database (January 2017-June 2018) from 28 centers in America. We compared pregnant and non-pregnant females' demographics, clinical presentation, laboratory data, imaging findings, management, and clinical outcomes. Results: Of the 3,597 subjects, 1,010 (28%) were of childbearing age, and 41 were pregnant: The mean age of the pregnant subjects was 30 ± 8 years at a median gestational age of 15 (range 10-23) weeks. The two groups had similar demographics and clinical presentation, but there were differences in management and outcomes. For example, in pregnant subjects, abdominal ultrasound scans (US) plus magnetic resonance imaging (MRI) was the most frequently used imaging method (41%) followed by MRI alone (29%), US alone (22%), computed tomography (CT) (5%), and no imaging (2%). Despite similar American Association for the Surgery of Trauma Emergency General Surgery Clinical and Imaging Grade at presentation, pregnant subjects were more likely to be treated with antibiotics alone (15% versus 4%; p = 0.008). Pregnant subjects were less likely to have simple appendicitis and were more likely to have complicated (perforated or gangrenous) appendicitis or a normal appendix. With the exception of index hospital length of stay, there were no significant differences between the groups in clinical outcomes at index hospitalization or at 30 days. Conclusion: Almost 1 in 20 women of childbearing age presenting with appendicitis is pregnant. Appendicitis most commonly affects women in early to mid-pregnancy. Compared with non-pregnant women of childbearing age, pregnant women presenting with appendicitis undergo non-operative management more often and are less likely to have simple appendicitis. Compared with non-pregnant patients, they have similar clinical outcomes at both index hospitalization and 30 days after discharge.

14.
JPEN J Parenter Enteral Nutr ; 44(5): 889-894, 2020 07.
Artigo em Inglês | MEDLINE | ID: mdl-31602681

RESUMO

BACKGROUND: Previous studies have used using Indirect Calorimetry (IC) with solitary or sparse measurements of resting energy expenditure (REE). This "snapshot" may not capture the dynamic nature of metabolic requirements. Using continuous IC, we describe the variation of REE during the first days in the intensive care unit. METHODS: Injured adults (≥18 years) requiring mechanical ventilation from March 2018 to September 2018 were enrolled. IC was initiated within 4 days of admission and continuous REE recorded until 14 days, extubation, or death. Multiple 10-minute periods collected during steady state were used to calculate daily REE maximum, minimum, average, and variability [(REEmax - REEmin/2)/average REE]. RESULTS: We included 55 patients. Median age was 38 [27-58] years, 38 (69%) were male, body mass index was 28 [25-33] kg/m2 , and Acute Physiology and Chronic Health Evaluation II was 17 [14-24]. Mechanism of injury was: blunt (n = 38, 69%), penetrating (n = 9, 16%), and burn (n = 8, 15%). Average REE increased gradually from 1,663 kcal [1,435-2,143] to a maximum of 2,080 [1,701-2,336] on day 7, a relative 25% increase, which was sustained through day 14. REE variability ranged 8%-13% and was not reliably predicted by fever, tachycardia, elevated intracranial pressures, hypertension, or hypotension. CONCLUSION: In critically injured patients, steady-state REE measurements display fluctuations over a 24-hour period and demonstrate a gradual rise over the first few days after injury. Continuous REE, if available, is recommended for more precise matching of energy delivery to metabolic requirements.

15.
Nutr Clin Pract ; 35(5): 927-932, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-31423668

RESUMO

BACKGROUND: Overfeeding and underfeeding are associated with poor clinical outcomes. In the absence of indirect calorimetry (IC), the Society of Critical Care Medicine/ASPEN recommend prescribing 25-30 kcal/kg. The Harris-Benedict equation (HBE) multiplied by a stress factor is commonly applied in critically ill patients. We describe the difference between estimated and actual energy needs in critically injured patients. METHODS: From March to November 2018, we collected demographics and energy needs determined by continuous IC (started within 4 days) in intubated adults. Ideal or adjusted body weight was used for 25-30 kcal/kg, and HBE was multiplied by a 1.3 stress factor (1.3HBE). Daily requirements up to 14 days, extubation, or death were calculated using all 3 methods and compared with IC. RESULTS: Fifty-five subjects were included. Median age was 38 [27-58] years, 38 (69%) were male, body mass index was 28 [25-33] kg/m2 , and Acute Physiology and Chronic Health Evaluation II score was 17 [14-24] Mechanism of injury was blunt (38, 69%), penetrating (9, 16%), and burn (8, 15%). By day 14, compared with measured energy requirements by IC, the other methods could result in a cumulative 1827-kcal (+7%) surplus (1.3HBE), a 1313-kcal (-5%) deficit (25 kcal/kg), or a 3950-kcal (+14%) surplus (30 kcal/kg) per patient over a median 9 days. CONCLUSION: In critically injured patients, predictive equations for energy needs do not account for dynamic metabolic changes over time and could result in underfeeding or overfeeding. Adjusting daily prescription based on continuous IC may result in better individualized treatment.

16.
Prenat Diagn ; 39(12): 1136-1147, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31498910

RESUMO

OBJECTIVE: 17q12 microdeletions containing HNF1B and intragenic variants within this gene are associated with variable developmental, endocrine, and renal anomalies, often already noted prenatally as hyperechogenic/cystic kidneys. Here, we describe prenatal and postnatal phenotypes of seven individuals with HNF1B aberrations and compare their clinical and genetic data to those of previous studies. METHODS: Prenatal sequencing and postnatal chromosomal microarray analysis were performed in seven individuals with renal and/or neurodevelopmental phenotypes. We evaluated HNF1B-related clinical features from 82 studies and reclassified 192 reported intragenic HNF1B variants. RESULTS: In a prenatal case, we identified a novel in-frame deletion p.(Gly239del) within the HNF1B DNA-binding domain, a mutational hot spot as demonstrated by spatial clustering analysis and high computational prediction scores. The six postnatally diagnosed individuals harbored 17q12 microdeletions. Literature screening revealed variable reporting of HNF1B-associated clinical traits. Overall, both mutation groups showed a high phenotypic heterogeneity. The reclassification of all previously reported intragenic HNF1B variants provided an up-to-date overview of the mutational spectrum. CONCLUSIONS: We highlight the value of prenatal HNF1B screening in renal developmental diseases. Standardized clinical reporting and systematic classification of HNF1B variants are necessary for a more accurate risk quantification of prenatal and postnatal clinical features, improving genetic counseling and prenatal decision making.


Assuntos
Deleção Cromossômica , Cromossomos Humanos Par 17/genética , Fator 1-beta Nuclear de Hepatócito/genética , Doenças Renais Císticas/diagnóstico , Análise em Microsséries , Diagnóstico Pré-Natal/métodos , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Adulto , Criança , Transtornos Cromossômicos/diagnóstico , Transtornos Cromossômicos/genética , Estudos de Coortes , Hibridização Genômica Comparativa/métodos , Análise Mutacional de DNA/métodos , Diagnóstico Diferencial , Feminino , Humanos , Recém-Nascido , Doenças Renais Císticas/genética , Masculino , Análise em Microsséries/métodos , Mutação , Gravidez , Síndrome
17.
J Trauma Acute Care Surg ; 87(1): 134-139, 2019 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31259871

RESUMO

BACKGROUND: The American Association for the Surgery of Trauma (AAST) has proposed a grading system for anatomic severity of 16 Emergency General Surgery conditions, including appendicitis. This is the first prospective, multicenter clinical study evaluating the AAST Appendicitis grading scale. METHODS: The EAST Appendicitis study utilized data collected prospectively from 27 centers, between January 2017 to June 2018. An overall grade was assigned as the highest grade of the subscales: clinical, radiographic, operative, and pathologic. Grade 1-3 of the clinical subscale was assigned as Grade 1. Patients with a final diagnosis other than appendicitis were excluded. The cohort was divided into two groups: simple appendicitis (Grades 1 and 2), and complicated appendicitis (Grades 3, 4, and 5).Fisher's exact and Kruskal-Wallis tests were used to determine association between the overall AAST grade and the following outcomes: infectious complications, Clavien-Dindo complications, hospital length of stay (LOS), 30-day emergency department visits, readmissions, and secondary interventions. RESULTS: A total of 2,909 cases were analyzed: 1,656 (57%) were Grade 1; 181 (6%), Grade 2; 399 (14%) Grade 4; and 549 (19%) Grade 5; 94% of patients underwent appendectomy. Index hospitalization LOS increased significantly with increasing grade: 1, [1,1], 1 [1,2], 1 [1,2], 2 [1,3], and 32,5 (p < 0.001). Infectious complications, Clavien-Dindo complications, hospital LOS, and secondary interventions were significantly associated with increasing AAST severity grade during index hospitalization. For 30-day outcomes, similar trends were noted for readmission, 30-day infections complications, 30-day cumulative infectious complications, 30-day Clavien-Dindo complications, 30-day cumulative Clavien-Dindo complications, 30-day secondary interventions, and 30-day cumulative secondary interventions. CONCLUSION: The AAST emergency general surgery grade for appendicitis is a valid predictor of clinical outcomes such as infectious complications, overall complications, and the need for secondary intervention. LEVEL OF EVIDENCE: Prognostic, level III.


Assuntos
Apendicite/patologia , Índice de Gravidade de Doença , Adulto , Apendicite/cirurgia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Reprodutibilidade dos Testes , Sociedades Médicas/normas , Estados Unidos , Adulto Jovem
18.
J Surg Res ; 243: 23-26, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31151033

RESUMO

BACKGROUND: It is commonly taught that a widened mediastinum (WM) on chest X-ray (CXR) is a marker for aortic injury (AI). We sought to describe the epidemiology of injuries for all patients with WM and compare their CXR to those of patients with confirmed AI. METHODS: Adults (age ≥ 18) sustaining blunt traumatic injuries from January 2017 to June 2017 with both CXR (supine, anterior-posterior) and chest CT were included. We excluded those whose CT preceded CXR and those with missing data. Basic demographics, injury characteristics, mediastinal width (MW), mediastinal-to-thoracic width ratio (MTR), and all thoracic imaging findings were analyzed. MW > 8 cm was considered WM. We also queried our registry for all AI patients over a 4-year period. The sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV), and accuracy of WM on CXR for AI were calculated. Multivariate logistic regression was performed to identify factors associated with positive traumatic findings, controlling for body mass index (BMI), sex, high-energy mechanism, MTR, and mediastinal width. RESULTS: Of 749 included subjects, 502 (67%) had an MW > 8 cm: mean age was 48 ± 20 y, 381 (76%) were men, and BMI was 28 ± 5 kg/m2. Mechanism of injury was motor vehicle crash in 335 (67%); fall in 113 (23%); assault in 31 (6%); other (jet-ski accidents, etc.) in 17 (3%), and unknown in 6 (1%). Only 128 (26%) of patients with WM had positive findings on CT, with the most common [80 (16%)] being nontraumatic findings (pericardial infusion, lymph nodes, etc.), followed by hemomediastinum/pneumomediastinum [32 (6%)], sternal fractures [18 (4%)], multiple findings [15 (3%)], and vertebral fractures [6 (1%)]. Only 2 (1%) had AI. The sensitivity was 100%, specificity was 33%, PPV was 0.4%, NPV was 100%, and accuracy was 33%. From 2013 to 2017, 38 patients had AI: mean age was 46 ± 19 y, 26 (68%) were men, and BMI was 28 ± 4 kg/m2. Motor vehicle crash was the most common mechanism (89%), followed by "other" trauma mechanism (5%), fall (3%), and assault (3%). On univariate analysis, compared with all patients with WM, patients with AI had significantly greater MW (9.5 [8.8-10.4] versus 10.2 [9.1-11.1]; P = 0.042) and MTR (0.31 [0.28-0.34] versus 0.32 [0.31-0.37]; P = 0.001), although the actual differences were not clinically significant. The regression analysis did not identify any factors associated with traumatic CXR findings. CONCLUSIONS: Most bluntly injured adults have a WM, and the majority have either no findings or nontraumatic findings. The PPV of a WM for AI is <1%. WM on supine CXR is nonspecific and inaccurate for diagnosing traumatic injuries, especially AI.


Assuntos
Aorta/lesões , Mediastino/diagnóstico por imagem , Traumatismos Torácicos/diagnóstico por imagem , Lesões do Sistema Vascular/diagnóstico por imagem , Ferimentos não Penetrantes/diagnóstico por imagem , Adulto , Idoso , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Radiografia Torácica , Estudos Retrospectivos , Sensibilidade e Especificidade , Tomografia Computadorizada por Raios X , Lesões do Sistema Vascular/etiologia
19.
Genet Med ; 21(12): 2723-2733, 2019 12.
Artigo em Inglês | MEDLINE | ID: mdl-31239556

RESUMO

PURPOSE: Pathogenic variants in the chromatin organizer CTCF were previously reported in seven individuals with a neurodevelopmental disorder (NDD). METHODS: Through international collaboration we collected data from 39 subjects with variants in CTCF. We performed transcriptome analysis on RNA from blood samples and utilized Drosophila melanogaster to investigate the impact of Ctcf dosage alteration on nervous system development and function. RESULTS: The individuals in our cohort carried 2 deletions, 8 likely gene-disruptive, 2 splice-site, and 20 different missense variants, most of them de novo. Two cases were familial. The associated phenotype was of variable severity extending from mild developmental delay or normal IQ to severe intellectual disability. Feeding difficulties and behavioral abnormalities were common, and variable other findings including growth restriction and cardiac defects were observed. RNA-sequencing in five individuals identified 3828 deregulated genes enriched for known NDD genes and biological processes such as transcriptional regulation. Ctcf dosage alteration in Drosophila resulted in impaired gross neurological functioning and learning and memory deficits. CONCLUSION: We significantly broaden the mutational and clinical spectrum ofCTCF-associated NDDs. Our data shed light onto the functional role of CTCF by identifying deregulated genes and show that Ctcf alterations result in nervous system defects in Drosophila.


Assuntos
Fator de Ligação a CCCTC/genética , Fator de Ligação a CCCTC/metabolismo , Transtornos do Neurodesenvolvimento/genética , Animais , Criança , Cromatina/genética , Cromatina/metabolismo , Deficiências do Desenvolvimento/genética , Proteínas de Drosophila/genética , Proteínas de Drosophila/metabolismo , Drosophila melanogaster/genética , Drosophila melanogaster/metabolismo , Feminino , Perfilação da Expressão Gênica/métodos , Regulação da Expressão Gênica/genética , Humanos , Deficiência Intelectual/genética , Masculino , Mutação/genética , Mutação de Sentido Incorreto/genética , Transtornos do Neurodesenvolvimento/metabolismo , Fatores de Transcrição/genética , Sequenciamento Completo do Exoma/métodos , Adulto Jovem
20.
Int J Cancer ; 145(4): 941-951, 2019 08 15.
Artigo em Inglês | MEDLINE | ID: mdl-30694527

RESUMO

Two percent of patients with Wilms tumors have a positive family history. In many of these cases the genetic cause remains unresolved. By applying germline exome sequencing in two families with two affected individuals with Wilms tumors, we identified truncating mutations in TRIM28. Subsequent mutational screening of germline and tumor DNA of 269 children affected by Wilms tumor was performed, and revealed seven additional individuals with germline truncating mutations, and one individual with a somatic truncating mutation in TRIM28. TRIM28 encodes a complex scaffold protein involved in many different processes, including gene silencing, DNA repair and maintenance of genomic integrity. Expression studies on mRNA and protein level showed reduction of TRIM28, confirming a loss-of-function effect of the mutations identified. The tumors showed an epithelial-type histology that stained negative for TRIM28 by immunohistochemistry. The tumors were bilateral in six patients, and 10/11 tumors are accompanied by perilobar nephrogenic rests. Exome sequencing on eight tumor DNA samples from six individuals showed loss-of-heterozygosity (LOH) of the TRIM28-locus by mitotic recombination in seven tumors, suggesting that TRIM28 functions as a tumor suppressor gene in Wilms tumor development. Additionally, the tumors showed very few mutations in known Wilms tumor driver genes, suggesting that loss of TRIM28 is the main driver of tumorigenesis. In conclusion, we identified heterozygous germline truncating mutations in TRIM28 in 11 children with mainly epithelial-type Wilms tumors, which become homozygous in tumor tissue. These data establish TRIM28 as a novel Wilms tumor predisposition gene, acting as a tumor suppressor gene by LOH.


Assuntos
Haploinsuficiência/genética , Proteína 28 com Motivo Tripartido/genética , Tumor de Wilms/genética , Carcinogênese/genética , Pré-Escolar , DNA de Neoplasias/genética , Feminino , Genes do Tumor de Wilms/fisiologia , Predisposição Genética para Doença/genética , Genótipo , Mutação em Linhagem Germinativa/genética , Heterozigoto , Humanos , Lactente , Neoplasias Renais/genética , Mutação com Perda de Função/genética , Perda de Heterozigosidade/genética , Masculino , Sequenciamento Completo do Exoma/métodos
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