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1.
Rev. colomb. cir ; 39(1): 113-121, 20240102. tab
Artigo em Espanhol | LILACS | ID: biblio-1526857

RESUMO

Introducción. Se describe la utilidad del umbral crítico de administración (CAT por su denominación en inglés) como herramienta para la reanimación hemostática en pacientes con trauma severo y oclusión endovascular aórtica. Métodos. Revisión retrospectiva de pacientes adultos con hemorragia por trauma, con o sin oclusión endovascular aórtica (REBOA), atendidos entre enero de 2015 y junio de 2020, en un centro de trauma nivel I en Cali, Colombia. Se registraron variables demográficas, severidad del trauma, estado clínico, requerimiento transfusional, tiempo hasta CAT+ y CAT alcanzado (1, 2 ó 3). Resultados. Se incluyeron 93 pacientes, se utilizó REBOA en 36 y manejo tradicional en 57. El grupo REBOA presentó mayor volumen de sangrado (mediana de 3000 ml, RIC: 1950-3625 ml) frente al grupo control (mediana de1500 ml, RIC: 700-2975ml) (p<0,001) y mayor cantidad de glóbulos rojos transfundidos en las primeras 6 horas (mediana de 5, RIC:4-9); p=0,015 y en las primeras 24 horas (mediana de 6, RIC: 4-11); p=0,005. No hubo diferencias estadísticamente significativas en número de pacientes CAT+ entre grupos o tiempo hasta alcanzarlo. Sin embargo, el estado CAT+ durante los primeros 30 minutos de la cirugía fue mayor en grupo REBOA (24/36, 66,7 %) frente al grupo control (17/57, 29,8 %; p=0,001), teniendo este mayor tasa de mortalidad intrahospitalaria frente a los pacientes CAT-. Conclusión. El umbral crítico de administración es una herramienta útil en la reanimación hemostática de pacientes con trauma y REBOA, que podría predecir mortalidad precoz.


Introduction. The objective is to describe the utility of the Critical Administration Threshold (CAT) as a tool in hemostatic resuscitation in patients with severe trauma and REBOA. Methods. Retrospective review between January 2015 and June 2020 of adult patients with hemorrhage secondary to trauma with or without REBOA in a level I trauma center in Cali, Colombia. Demographic variables, trauma severity, clinical status, transfusion needs, time to CAT+ and number of CAT achieved (1, 2 or 3) were recorded. Results. Ninety-three patients were included, in which REBOA was used in 36 and traditional management in 57. The REBOA group had a higher bleeding volume (3000 ml), IQR: 1950-3625 ml vs the control group (1500 ml, IQR: 700-2975 ml) (p<0.001) and a higher rate of PRBC units transfused in the first 6 hours (median 5, IQR: 4-9); p=0.015 and in the first 24 hours (median 6, IQR: 4-11); p=0.005. There were no statistically significant differences in the number of CAT+ patients between groups or time to CAT+. However, CAT+ status during the first 30 minutes of surgery was higher in the REBOA Group (24/36, 66.7%) vs. the control group (17/57, 29.8%; p=0.001), having this group a higher in-hospital mortality rate vs. CAT- patients. Conclusion. CAT is a useful tool in the hemostatic resuscitation of patients with trauma and REBOA that could predict early mortality.


Assuntos
Humanos , Ferimentos e Lesões , Reanimação Cardiopulmonar , Procedimentos Endovasculares , Aorta , Transfusão de Sangue , Oclusão com Balão , Hemorragia
2.
J Mol Diagn ; 26(1): 17-28, 2024 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-37865290

RESUMO

Establishing the pathogenic nature of variants in ATM, a gene associated with breast cancer and other hereditary cancers, is crucial for providing patients with adequate care. Unfortunately, achieving good variant classification is still difficult. To address this challenge, we extended the range of in silico tools with a series of graphical tools devised for the analysis of computational evidence by health care professionals. We propose a family of fast and easy-to-use graphical representations in which the impact of a variant is considered relative to other pathogenic and benign variants. To illustrate their value, the representations are applied to three problems in variant interpretation. The assessment of computational pathogenicity predictions showed that the graphics provide an intuitive view of prediction reliability, complementing and extending conventional numerical reliability indexes. When applied to variant of unknown significance populations, the representations shed light on the nature of these variants and can be used to prioritize variants of unknown significance for further studies. In a third application, the graphics were used to compare the two versions of the ATM-adapted American College of Medical Genetics and Genomics and Association for Molecular Pathology guidelines, obtaining valuable information on their relative virtues and weaknesses. Finally, a server [ATMision (ATM missense in silico interpretation online)] was generated for users to apply these representations in their variant interpretation problems, to check the ATM-adapted guidelines' criteria for computational evidence on their variant(s) and access different sources of information.


Assuntos
Neoplasias da Mama , Mutação de Sentido Incorreto , Humanos , Feminino , Reprodutibilidade dos Testes , Mutação de Sentido Incorreto/genética , Genômica , Neoplasias da Mama/genética , Proteínas Mutadas de Ataxia Telangiectasia/genética
3.
Nat Commun ; 14(1): 4109, 2023 07 11.
Artigo em Inglês | MEDLINE | ID: mdl-37433783

RESUMO

Genetic variants in chromatin regulators are frequently found in neurodevelopmental disorders, but their effect in disease etiology is rarely determined. Here, we uncover and functionally define pathogenic variants in the chromatin modifier EZH1 as the cause of dominant and recessive neurodevelopmental disorders in 19 individuals. EZH1 encodes one of the two alternative histone H3 lysine 27 methyltransferases of the PRC2 complex. Unlike the other PRC2 subunits, which are involved in cancers and developmental syndromes, the implication of EZH1 in human development and disease is largely unknown. Using cellular and biochemical studies, we demonstrate that recessive variants impair EZH1 expression causing loss of function effects, while dominant variants are missense mutations that affect evolutionarily conserved aminoacids, likely impacting EZH1 structure or function. Accordingly, we found increased methyltransferase activity leading to gain of function of two EZH1 missense variants. Furthermore, we show that EZH1 is necessary and sufficient for differentiation of neural progenitor cells in the developing chick embryo neural tube. Finally, using human pluripotent stem cell-derived neural cultures and forebrain organoids, we demonstrate that EZH1 variants perturb cortical neuron differentiation. Overall, our work reveals a critical role of EZH1 in neurogenesis regulation and provides molecular diagnosis for previously undefined neurodevelopmental disorders.


Assuntos
Transtornos do Neurodesenvolvimento , Neurogênese , Complexo Repressor Polycomb 2 , Animais , Embrião de Galinha , Humanos , Diferenciação Celular/genética , Núcleo Celular , Cromatina/genética , Metiltransferases , Transtornos do Neurodesenvolvimento/genética , Neurogênese/genética , Complexo Repressor Polycomb 2/genética
4.
Int J Mol Sci ; 24(14)2023 Jul 24.
Artigo em Inglês | MEDLINE | ID: mdl-37511631

RESUMO

Pathogenicity predictors are computational tools that classify genetic variants as benign or pathogenic; this is currently a major challenge in genomic medicine. With more than fifty such predictors available, selecting the most suitable tool for clinical applications like genetic screening, molecular diagnostics, and companion diagnostics has become increasingly challenging. To address this issue, we have developed a cost-based framework that naturally considers the various components of the problem. This framework encodes clinical scenarios using a minimal set of parameters and treats pathogenicity predictors as rejection classifiers, a common practice in clinical applications where low-confidence predictions are routinely rejected. We illustrate our approach in four examples where we compare different numbers of pathogenicity predictors for missense variants. Our results show that no single predictor is optimal for all clinical scenarios and that considering rejection yields a different perspective on classifiers.


Assuntos
Biologia Computacional , Testes Genéticos , Biologia Computacional/métodos , Testes Genéticos/métodos , Mutação de Sentido Incorreto
5.
Sci Adv ; 9(10): eade1463, 2023 03 10.
Artigo em Inglês | MEDLINE | ID: mdl-36897941

RESUMO

Pathogenic variants in KMT5B, a lysine methyltransferase, are associated with global developmental delay, macrocephaly, autism, and congenital anomalies (OMIM# 617788). Given the relatively recent discovery of this disorder, it has not been fully characterized. Deep phenotyping of the largest (n = 43) patient cohort to date identified that hypotonia and congenital heart defects are prominent features that were previously not associated with this syndrome. Both missense variants and putative loss-of-function variants resulted in slow growth in patient-derived cell lines. KMT5B homozygous knockout mice were smaller in size than their wild-type littermates but did not have significantly smaller brains, suggesting relative macrocephaly, also noted as a prominent clinical feature. RNA sequencing of patient lymphoblasts and Kmt5b haploinsufficient mouse brains identified differentially expressed pathways associated with nervous system development and function including axon guidance signaling. Overall, we identified additional pathogenic variants and clinical features in KMT5B-related neurodevelopmental disorder and provide insights into the molecular mechanisms of the disorder using multiple model systems.


Assuntos
Megalencefalia , Transtornos do Neurodesenvolvimento , Animais , Humanos , Camundongos , Haploinsuficiência , Metiltransferases/genética , Camundongos Knockout , Transtornos do Neurodesenvolvimento/genética , Fenótipo
6.
Rev Bras Ginecol Obstet ; 44(9): 838-844, 2022 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-36067797

RESUMO

OBJECTIVE: The immediate referral of patients with risk factors for placenta accreta spectrum (PAS) to specialized centers is recommended, thus favoring an early diagnosis and an interdisciplinary management. However, diagnostic errors are frequent, even in referral centers (RCs). We sought to evaluate the performance of the prenatal diagnosis for PAS in a Latin American hospital. METHODS: A retrospective descriptive study including patients referred due to the suspicion of PAS was conducted. Data from the prenatal imaging studies were compared with the final diagnoses (intraoperative and/or histological). RESULTS: A total of 162 patients were included in the present study. The median gestational age at the time of the first PAS suspicious ultrasound was 29 weeks, but patients arrived at the PAS RC at 34 weeks. The frequency of false-positive results at referring hospitals was 68.5%. Sixty-nine patients underwent surgery based on the suspicion of PAS at 35 weeks, and there was a 28.9% false-positive rate at the RC. In 93 patients, the diagnosis of PAS was ruled out at the RC, with a 2.1% false-negative frequency. CONCLUSION: The prenatal diagnosis of PAS is better at the RC. However, even in these centers, false-positive results are common; therefore, the intraoperative confirmation of the diagnosis of PAS is essential.


OBJETIVO: Recomenda-se o encaminhamento imediato de pacientes com fatores de risco para espectro placentário acreta (PAS, na sigla em inglês) para centros especializados, favorecendo assim o diagnóstico precoce e o manejo interdisciplinar. No entanto, erros diagnósticos são frequentes, mesmo em centros de referência (CRs). Buscou-se avaliar o desempenho do diagnóstico pré-natal para PAS em um hospital latino-americano. MéTODOS: Um estudo descritivo retrospectivo incluindo pacientes encaminhados por suspeita de SAP foi realizado. Os dados dos exames de imagem do pré-natal foram comparados com os diagnósticos finais (intraoperatórios e/ou histológicos). RESULTADOS: Foram incluídos 162 pacientes no presente estudo. A idade gestacional mediana no momento da primeira ultrassonografia suspeita de PAS foi de 29 semanas, mas as pacientes chegaram ao CR de PAS com 34 semanas. A frequência de resultados falso-positivos nos hospitais de referência foi de 68,5%. Sessenta e nove pacientes foram operadas com base na suspeita de PAS com 35 semanas e houve 28,9% de falso-positivos no CR. Em 93 pacientes, o diagnóstico de PAS foi descartado no CR, com frequência de falso-negativos de 2,1%. CONCLUSãO: O diagnóstico pré-natal de PAS é melhor no CR. Entretanto, mesmo nestes centros, resultados falso-positivos são comuns; portanto, a confirmação intraoperatória do diagnóstico de SAP é essencial.


Assuntos
Placenta Acreta , Feminino , Idade Gestacional , Humanos , Lactente , Placenta , Placenta Acreta/diagnóstico por imagem , Gravidez , Diagnóstico Pré-Natal , Estudos Retrospectivos , Ultrassonografia Pré-Natal
7.
Rev. bras. ginecol. obstet ; 44(9): 838-844, Sept. 2022. tab, graf
Artigo em Inglês | LILACS | ID: biblio-1423282

RESUMO

Abstract Objective The immediate referral of patients with risk factors for placenta accreta spectrum (PAS) to specialized centers is recommended, thus favoring an early diagnosis and an interdisciplinary management. However, diagnostic errors are frequent, even in referral centers (RCs). We sought to evaluate the performance of the prenatal diagnosis for PAS in a Latin American hospital. Methods A retrospective descriptive study including patients referred due to the suspicion of PAS was conducted. Data from the prenatal imaging studies were compared with the final diagnoses (intraoperative and/or histological). Results A total of 162 patients were included in the present study. The median gestational age at the time of the first PAS suspicious ultrasound was 29 weeks, but patients arrived at the PAS RC at 34 weeks. The frequency of false-positive results at referring hospitals was 68.5%. Sixty-nine patients underwent surgery based on the suspicion of PAS at 35 weeks, and there was a 28.9% false-positive rate at the RC. In 93 patients, the diagnosis of PAS was ruled out at the RC, with a 2.1% false-negative frequency. Conclusion The prenatal diagnosis of PAS is better at the RC. However, even in these centers, false-positive results are common; therefore, the intraoperative confirmation of the diagnosis of PAS is essential.


Resumo Objetivo Recomenda-se o encaminhamento imediato de pacientes com fatores de risco para espectro placentário acreta (PAS, na sigla em inglês) para centros especializados, favorecendo assim o diagnóstico precoce e o manejo interdisciplinar. No entanto, erros diagnósticos são frequentes, mesmo em centros de referência (CRs). Buscou-se avaliar o desempenho do diagnóstico pré-natal para PAS em um hospital latino-americano. Métodos Um estudo descritivo retrospectivo incluindo pacientes encaminhados por suspeita de SAP foi realizado. Os dados dos exames de imagem do pré-natal foram comparados com os diagnósticos finais (intraoperatórios e/ou histológicos). Resultados Foram incluídos 162 pacientes no presente estudo. A idade gestacional mediana no momento da primeira ultrassonografia suspeita de PAS foi de 29 semanas, mas as pacientes chegaram ao CR de PAS com 34 semanas. A frequência de resultados falso-positivos nos hospitais de referência foi de 68,5%. Sessenta e nove pacientes foram operadas com base na suspeita de PAS com 35 semanas e houve 28,9% de falso-positivos no CR. Em 93 pacientes, o diagnóstico de PAS foi descartado no CR, com frequência de falso-negativos de 2,1%. Conclusão O diagnóstico pré-natal de PAS é melhor no CR. Entretanto, mesmo nestes centros, resultados falso-positivos são comuns; portanto, a confirmação intraoperatória do diagnóstico de SAP é essencial.


Assuntos
Humanos , Feminino , Gravidez , Placenta Acreta , Procedimentos Cirúrgicos Operatórios , Ultrassonografia Pré-Natal , Ultrassonografia , Reações Falso-Positivas
8.
PLoS One ; 16(10): e0258766, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34653234

RESUMO

Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10-15% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of 14 patients with clinical features of AS and no molecular diagnosis. As a result, we identified 10 de novo and 1 X-linked pathogenic/likely pathogenic variants in 10 neurodevelopmental genes (SYNGAP1, VAMP2, TBL1XR1, ASXL3, SATB2, SMARCE1, SPTAN1, KCNQ3, SLC6A1 and LAS1L) and one deleterious de novo variant in a candidate gene (HSF2). Our results highlight the wide genetic heterogeneity in AS-like patients and expands the differential diagnosis.


Assuntos
Síndrome de Angelman/genética , Sequenciamento do Exoma/métodos , Redes Reguladoras de Genes , Adolescente , Adulto , Criança , Feminino , Estudos de Associação Genética , Predisposição Genética para Doença , Proteínas de Choque Térmico , Humanos , Lactente , Masculino , Proteínas de Ligação à Região de Interação com a Matriz/genética , Receptores Citoplasmáticos e Nucleares/genética , Proteínas Repressoras/genética , Fatores de Transcrição/genética , Proteína 2 Associada à Membrana da Vesícula/genética , Adulto Jovem
9.
Int J Mol Sci ; 22(12)2021 Jun 09.
Artigo em Inglês | MEDLINE | ID: mdl-34207612

RESUMO

The present limitations in the pathogenicity prediction of BRCA1 and BRCA2 (BRCA1/2) missense variants constitute an important problem with negative consequences for the diagnosis of hereditary breast and ovarian cancer. However, it has been proposed that the use of endophenotype predictions, i.e., computational estimates of the outcomes of functional assays, can be a good option to address this bottleneck. The application of this idea to the BRCA1/2 variants in the CAGI 5-ENIGMA international challenge has shown promising results. Here, we developed this approach, exploring the predictive performances of the regression models applied to the BRCA1/2 variants for which the values of the homology-directed DNA repair and saturation genome editing assays are available. Our results first showed that we can generate endophenotype estimates using a few molecular-level properties. Second, we show that the accuracy of these estimates is enough to obtain pathogenicity predictions comparable to those of many standard tools. Third, endophenotype-based predictions are complementary to, but do not outperform, those of a Random Forest model trained using variant pathogenicity annotations instead of endophenotype values. In summary, our results confirmed the usefulness of the endophenotype approach for the pathogenicity prediction of the BRCA1/2 missense variants, suggesting different options for future improvements.


Assuntos
Proteína BRCA1 , Proteína BRCA2 , Simulação por Computador , Modelos Biológicos , Mutação de Sentido Incorreto , Neoplasias Ovarianas , Proteína BRCA1/genética , Proteína BRCA1/metabolismo , Proteína BRCA2/genética , Proteína BRCA2/metabolismo , Feminino , Humanos , Neoplasias Ovarianas/genética , Neoplasias Ovarianas/metabolismo
10.
Development ; 148(12)2021 06 15.
Artigo em Inglês | MEDLINE | ID: mdl-34081130

RESUMO

Epigenetic factors have been shown to play a crucial role in X-linked intellectual disability (XLID). Here, we investigate the contribution of the XLID-associated histone demethylase PHF8 to astrocyte differentiation and function. Using genome-wide analyses and biochemical assays in mouse astrocytic cultures, we reveal a regulatory crosstalk between PHF8 and the Notch signaling pathway that balances the expression of the master astrocytic gene Nfia. Moreover, PHF8 regulates key synaptic genes in astrocytes by maintaining low levels of H4K20me3. Accordingly, astrocytic-PHF8 depletion has a striking effect on neuronal synapse formation and maturation in vitro. These data reveal that PHF8 is crucial in astrocyte development to maintain chromatin homeostasis and limit heterochromatin formation at synaptogenic genes. Our studies provide insights into the involvement of epigenetics in intellectual disability.


Assuntos
Astrócitos/metabolismo , Diferenciação Celular , Regulação da Expressão Gênica , Histona Desmetilases/genética , Fatores de Transcrição/genética , Animais , Astrócitos/citologia , Sítios de Ligação , Biomarcadores , Diferenciação Celular/genética , Proliferação de Células , Perfilação da Expressão Gênica , Histona Desmetilases/metabolismo , Histonas/metabolismo , Camundongos , Modelos Biológicos , Neurogênese , Neurônios/metabolismo , Ligação Proteica , Sinapses/metabolismo , Fatores de Transcrição/metabolismo , Transcrição Gênica
11.
Colomb Med (Cali) ; 52(2): e4004801, 2021 May 30.
Artigo em Inglês | MEDLINE | ID: mdl-34188318

RESUMO

Patients with hemodynamic instability have a sustained systolic blood pressure less or equal to 90 mmHg, a heart rate greater or equal to 120 beats per minute and an acute compromise of the ventilation/oxygenation ratio and/or an altered state of consciousness upon admission. These patients have higher mortality rates due to massive hemorrhage, airway injury and/or impaired ventilation. Damage control resuscitation is a systematic approach that aims to limit physiologic deterioration through strategies that address the physiologic debt of trauma. This article aims to describe the experience earned by the Trauma and Emergency Surgery Group (CTE) of Cali, Colombia in the management of the severely injured trauma patient in the emergency department following the basic principles of damage control surgery. Since bleeding is the main cause of death, the management of the severely injured trauma patient in the emergency department requires a multidisciplinary team that performs damage control maneuvers aimed at rapidly controlling bleeding, hemostatic resuscitation, and/or prompt transfer to the operating room, if required.


Un paciente politraumatizado hemodinámicamente inestable es aquel que ingresa al servicio de urgencias con una presión arterial sistólica menor o igual de 90 mmHg, una frecuencia cardiaca mayor o igual a 120 latidos por minuto y un compromiso agudo de la relación ventilación/oxigenación y/o del estado de conciencia. Por esta razón, existe una alta mortalidad dentro de las primeras horas de un trauma severo ya sea por una hemorragia masiva, una lesión de la vía aérea y/o una alteración de la ventilación. Siendo el objetivo de este artículo describir el manejo en urgencias del paciente politraumatizado hemodinámicamente inestable de acuerdo con los principios de control de daños. El manejo del paciente politraumatizado es una estrategia dinámica de alto impacto que requiere de un equipo multidisciplinario de experiencia. El cual debe de evolucionar conjunto a las nuevas herramientas de diagnóstico y tratamiento endovascular que buscan ser un puente para lograr una menor repercusión hemodinámica en el paciente y una más rápida y efectiva estabilización con mayores tasas de sobrevida.


Assuntos
Cuidados de Suporte Avançado de Vida no Trauma/métodos , Serviço Hospitalar de Emergência , Hemorragia/terapia , Ressuscitação/métodos , Colômbia , Veia Femoral , Técnicas Hemostáticas , Humanos , Escala de Gravidade do Ferimento , Guias de Prática Clínica como Assunto , Dispositivos de Acesso Vascular
12.
Colomb Med (Cali) ; 52(2): e4024592, 2021 Apr 08.
Artigo em Inglês | MEDLINE | ID: mdl-34188320

RESUMO

Penetrating torso trauma is the second leading cause of death following head injury. Traffic accidents, falls and overall blunt trauma are the most common mechanism of injuries in developed countries; whereas, penetrating trauma which includes gunshot and stabs wounds is more prevalent in developing countries due to ongoing violence and social unrest. Penetrating chest and abdominal trauma have high mortality rates at the scene of the incident when important structures such as the heart, great vessels, or liver are involved. Current controversies surround the optimal surgical approach of these cases including the use of an endovascular device such as the Resuscitative Endovascular Balloon Occlusion of the Aorta (REBOA) and the timing of additional imaging aids. This article aims to shed light on this subject based on the experience earned during the past 30 years in trauma critical care management of the severely injured patient. We have found that prioritizing the fact that the patient is hemodynamically unstable and obtaining early open or endovascular occlusion of the aorta to gain ground on avoiding the development of the lethal diamond is of utmost importance. Damage control surgery starts with choosing the right surgery of the right cavity in the right patient. For this purpose, we present a practical and simple guide on how to perform the surgical approach to penetrating torso trauma in a hemodynamically unstable patient.


El trauma penetrante del torso representa la segunda causa de muerte de origen traumático después del trauma craneoencefálico. En países desarrollados existe mayor prevalencia de trauma cerrado, asociado principalmente a accidentes de tránsito o caídas de grandes alturas. Mientas, que en países en vía de desarrollo el trauma penetrante es más prevalente con heridas por arma de fuego o por arma blanca asociado a la violencia y las desigualdades sociales. El trauma penetrante torácico y abdominal pueden presentar altas tasas de mortalidad en la escena del trauma si se comprometen estructuras importantes como el corazón, los grandes vasos o el hígado. Actualmente, existen controversias sobre el adecuado abordaje quirúrgico con la implementación o no de dispositivos endovasculares como el balón de resucitación endovascular de oclusión aórtica (Resuscitative Endovascular Balloon Oclussion of the Aorta - REBOA) y la realización de ayudas imagenológicas. El objetivo de este artículo es presentar el conocimiento sobre este tema, basado en la experiencia adquirida durante los últimos 30 años con el manejo del trauma, cirugía general y cuidado crítico. Sostenemos que en un paciente hemodinámicamente inestable se debe realizar una temprana oclusión aórtica endovascular o abierta con el objetivo de evitar el desarrollo o propagación del rombo de la muerte. Con este propósito, presentamos una guía práctica y sencilla sobre el abordaje quirúrgico del paciente hemodinámicamente inestable con trauma penetrante del torso.


Assuntos
Traumatismos Abdominais/cirurgia , Cuidados de Suporte Avançado de Vida no Trauma/métodos , Aorta/lesões , Esternotomia/métodos , Traumatismos Torácicos/cirurgia , Ferimentos Penetrantes/cirurgia , Cuidados de Suporte Avançado de Vida no Trauma/normas , Oclusão com Balão/métodos , Humanos , Ilustração Médica , Lesões do Sistema Vascular/terapia
13.
Colomb Med (Cali) ; 52(2): e4034519, 2021 Apr 03.
Artigo em Inglês | MEDLINE | ID: mdl-34188321

RESUMO

Definitive management of hemodynamically stable patients with penetrating cardiac injuries remains controversial between those who propose aggressive invasive care versus those who opt for a less invasive or non-operative approach. This controversy even extends to cases of hemodynamically unstable patients in which damage control surgery is thought to be useful and effective. The aim of this article is to delineate our experience in the surgical management of penetrating cardiac injuries via the creation of a clear and practical algorithm that includes basic principles of damage control surgery. We recommend that all patients with precordial penetrating injuries undergo trans-thoracic ultrasound screening as an integral component of their initial evaluation. In those patients who arrive hemodynamically stable but have a positive ultrasound, a pericardial window with lavage and drainage should follow. We want to emphasize the importance of the pericardial lavage and drainage in the surgical management algorithm of these patients. Before this concept, all positive pericardial windows ended up in an open chest exploration. With the coming of the pericardial lavage and drainage procedure, the reported literature and our experience have shown that 25% of positive pericardial windows do not benefit and/or require further invasive procedures. However, in hemodynamically unstable patients, damage control surgery may still be required to control ongoing bleeding. For this purpose, we propose a surgical management algorithm that includes all of these essential clinical aspects in the care of these patients.


El manejo definitivo de los pacientes hemodinámicamente estables con heridas cardíacas penetrantes continúa siendo controversial con abordajes invasivos versus manejos conservadores. Estas posiciones contrarias se extienden hasta aquellos casos de pacientes hemodinámicamente inestables donde se ha descrito y considerado la cirugía de control de daños como un procedimiento útil y efectivo. El objetivo de este artículo es presentar la experiencia en el manejo quirúrgico de heridas cardíacas penetrantes con la creación de un algoritmo práctico que incluye los principios básicos del control de daños. Se recomienda que a todos los pacientes con heridas precordiales penetrantes se les debe realizar un ultrasonido torácico como componente integral de la evaluación inicial. Aquellos que presenten un ultrasonido torácico positivo y se encuentren hemodinámicamente estables se les debe realizar una ventana pericárdica con posterior lavado. Se ha demostrado que el 25% de las ventanas pericárdicas positivas no se benefician ni requieren de posteriores abordajes quirúrgicos invasivos. Antes de este concepto, todos los pacientes con ventana pericárdica positiva terminaban en una exploración abierta del tórax y del pericárdico.Los pacientes hemodinámicamente inestables requieren de una cirugía de control de daños para un adecuado y oportuno control del sangrado. Con este propósito, se propone un algoritmo de manejo quirúrgico que incluye todos estos aspectos esenciales en el abordaje de este grupo de pacientes.


Assuntos
Algoritmos , Traumatismos Cardíacos/cirurgia , Técnicas de Janela Pericárdica , Ferimentos Penetrantes/cirurgia , Colômbia/epidemiologia , Drenagem , Traumatismos Cardíacos/diagnóstico , Traumatismos Cardíacos/diagnóstico por imagem , Traumatismos Cardíacos/epidemiologia , Hemorragia/terapia , Técnicas Hemostáticas , Humanos , Ilustração Médica , Complicações Pós-Operatórias , Irrigação Terapêutica , Ultrassonografia/métodos , Ferimentos Penetrantes/diagnóstico , Ferimentos Penetrantes/diagnóstico por imagem , Ferimentos Penetrantes/epidemiologia
14.
Colomb Med (Cali) ; 52(2): e4084794, 2021 May 07.
Artigo em Inglês | MEDLINE | ID: mdl-34188324

RESUMO

The spleen is one of the most commonly injured solid organs of the abdominal cavity and an early diagnosis can reduce the associated mortality. Over the past couple of decades, management of splenic injuries has evolved to a prefered non-operative approach even in severely injured cases. However, the optimal surgical management of splenic trauma in severely injured patients remains controversial. This article aims to present an algorithm for the management of splenic trauma in severely injured patients, that includes basic principles of damage control surgery and is based on the experience obtained by the Trauma and Emergency Surgery Group (CTE) of Cali, Colombia. The choice between a conservative or a surgical approach depends on the hemodynamic status of the patient. In hemodynamically stable patients, a computed tomography angiogram should be performed to determine if non-operative management is feasible and if angioembolization is required. While hemodynamically unstable patients should be transferred immediately to the operating room for damage control surgery, which includes splenic packing and placement of a negative pressure dressing, followed by angiography with embolization of any ongoing arterial bleeding. It is our recommendation that both damage control principles and emerging endovascular technologies should be applied to achieve splenic salvage when possible. However, if surgical bleeding persists a splenectomy may be required as a definitive lifesaving maneuver.


El bazo es uno de los órganos sólidos comprometidos con mayor frecuencia en el trauma abdominal y el diagnóstico oportuno disminuye la mortalidad. El manejo del trauma esplénico ha cambiado considerablemente en las últimas décadas y hoy en día se prefiere un abordaje conservador incluso en casos de lesión severa. Sin embargo, la estrategia óptima para el manejo del trauma esplénico en el paciente severamente traumatizado aún es controvertida. El objetivo de este artículo es proponer una estrategia de manejo para el trauma esplénico en pacientes politraumatizados que incluye los principios de la cirugía de control de daños en base a la experiencia obtenida por el grupo de Cirugía de Trauma y Emergencias (CTE) de Cali, Colombia. La decisión entre un abordaje conservador o quirúrgico depende del estado hemodinámico del paciente. En pacientes hemodinámicamente estables, se debe realizar una tomografía axial computarizada con contraste endovenoso para determinar si es posible un manejo conservador y si requiere angio-embolización. Mientras que los pacientes hemodinámicamente inestables deben ser trasladados inmediatamente al quirófano para empaquetamiento esplénico y colocación de un sistema de presión negativa, seguido de angiografía con embolización de cualquier sangrado arterial persistente. Es nuestra recomendación aplicar conjuntamente los principios del control de daños y las tecnologías endovasculares emergentes para lograr la conservación del bazo, cuando sea posible. Sin embargo, si el sangrado persiste puede requerirse una esplenectomía como medida definitiva para salvaguardar la vida del paciente.


Assuntos
Algoritmos , Tratamento Conservador , Tratamentos com Preservação do Órgão , Baço/lesões , Traumatismos Abdominais/complicações , Traumatismos Abdominais/cirurgia , Cuidados de Suporte Avançado de Vida no Trauma/normas , Colômbia , Angiografia por Tomografia Computadorizada , Embolização Terapêutica , Tamponamento Interno/métodos , Técnicas Hemostáticas , Humanos , Tratamento de Ferimentos com Pressão Negativa , Baço/irrigação sanguínea , Baço/diagnóstico por imagem , Baço/cirurgia , Esplenectomia , Artéria Esplênica/lesões , Artéria Esplênica/cirurgia
15.
Colomb Med (Cali) ; 52(2): e4104509, 2021 May 03.
Artigo em Inglês | MEDLINE | ID: mdl-34188326

RESUMO

The overall incidence of duodenal injuries in severely injured trauma patients is between 0.2 to 0.6% and the overall prevalence in those suffering from abdominal trauma is 3 to 5%. Approximately 80% of these cases are secondary to penetrating trauma, commonly associated with vascular and adjacent organ injuries. Therefore, defining the best surgical treatment algorithm remains controversial. Mild to moderate duodenal trauma is currently managed via primary repair and simple surgical techniques. However, severe injuries have required complex surgical techniques without significant favorable outcomes and a consequential increase in mortality rates. This article aims to delineate the experience in the surgical management of penetrating duodenal injuries via the creation of a practical and effective algorithm that includes basic principles of damage control surgery that sticks to the philosophy of "Less is Better". Surgical management of all penetrating duodenal trauma should always default when possible to primary repair. When confronted with a complex duodenal injury, hemodynamic instability, and/or significant associated injuries, the default should be damage control surgery. Definitive reconstructive surgery should be postponed until the patient has been adequately resuscitated and the diamond of death has been corrected.


El trauma de duodeno comúnmente se produce por un trauma penetrante que puede asociarse a lesiones vasculares y de órganos adyacentes. En el manejo quirúrgico se recomienda realizar un reparo primario o el empleo de técnicas quirúrgicas simples. Sin embargo, el abordaje de lesiones severas del duodeno es un tema controversial. Anteriormente, se han descrito técnicas como la exclusión pilórica o la pancreatoduodenectomía con resultados no concluyentes. El presente artículo presenta una propuesta del manejo de control de daños del trauma penetrante de duodeno, a través, de un algoritmo de cinco pasos. Este algoritmo plantea una solución para el cirujano cuando no es posible realizar el reparo primario. El control de daños del duodeno y su reconstrucción depende de una toma de decisiones respecto a la porción del duodeno lesionada y el compromiso sobre el complejo pancreatoduodenal. Se recomiendan medidas rápidas para contener el daño y se proponen vías de reconstrucción duodenal diferente a las clásicamente descritas. Igualmente, la probabilidad de complicaciones como fistula duodenales es considerable, por lo que proponemos, que el manejo de este tipo de fistulas de alto gasto se aborde por medio de una laparostomía retroperitoneal (lumbotomía). El abordaje del trauma penetrante de duodeno se puede realizar a través del principio "menos es mejor".


Assuntos
Algoritmos , Duodeno/lesões , Ferimentos Penetrantes/cirurgia , Hemorragia/terapia , Humanos , Ilustração Médica , Ferimentos Penetrantes/classificação , Ferimentos Penetrantes/complicações , Ferimentos Penetrantes/diagnóstico
16.
Colomb Med (Cali) ; 52(2): e4114425, 2021 Apr 27.
Artigo em Inglês | MEDLINE | ID: mdl-34188327

RESUMO

Hollow viscus injuries represent a significant portion of overall lesions sustained during penetrating trauma. Currently, isolated small or large bowel injuries are commonly managed via primary anastomosis in patients undergoing definitive laparotomy or deferred anastomosis in patients requiring damage control surgery. The traditional surgical dogma of ostomy has proven to be unnecessary and, in many instances, actually increases morbidity. The aim of this article is to delineate the experience obtained in the management of combined hollow viscus injuries of patients suffering from penetrating trauma. We sought out to determine if primary and/or deferred bowel injury repair via anastomosis is the preferred surgical course in patients suffering from combined small and large bowel penetrating injuries. Our experience shows that more than 90% of all combined penetrating bowel injuries can be managed via primary or deferred anastomosis, even in the most severe cases requiring the application of damage control principles. Applying this strategy, the overall need for an ostomy (primary or deferred) could be reduced to less than 10%.


El trauma de las vísceras huecas representa una gran proporción de las lesiones asociadas al trauma penetrante. Actualmente, las lesiones aisladas de intestino delgado o colon se manejan a través de anastomosis primaria en pacientes sometidos a laparotomía definitiva o anastomosis diferida en pacientes que requieran cirugía de control de daños. El dogma quirúrgico tradicional de la ostomía se ha probado que es innecesario y en muchos casos puede aumentar la morbilidad. El objetivo de este artículo es describir la experiencia obtenida en el manejo de lesiones combinadas de vísceras huecas de pacientes con trauma penetrante. Se determinó que el manejo primario o diferido del intestino a través de anastomosis es el abordaje quirúrgico preferido en pacientes que presentan lesiones penetrantes combinadas de intestino delgado y colon. Se ha reportado que el 90% de lesiones combinadas penetrantes intestinales pueden ser manejadas a través de anastomosis primaria o diferida incluso en los casos más severos requieren la aplicación de los principios de control de daños. Aplicando esta estrategia, la tasa general para ostomía (primaria o diferida) puede ser reducida a menos del 10%.


Assuntos
Anastomose Cirúrgica/métodos , Consenso , Enterostomia , Intestino Grosso/lesões , Intestino Delgado/lesões , Ferimentos Penetrantes/cirurgia , Adulto , Colômbia , Enterostomia/estatística & dados numéricos , Feminino , Hemorragia/etiologia , Hemorragia/cirurgia , Humanos , Intestino Grosso/cirurgia , Intestino Delgado/cirurgia , Laparotomia , Masculino , Ilustração Médica , Estudos Retrospectivos , Ferimentos por Arma de Fogo/complicações , Ferimentos por Arma de Fogo/cirurgia , Ferimentos Penetrantes/classificação , Ferimentos Penetrantes/complicações , Adulto Jovem
17.
Colomb Med (Cali) ; 52(2): e4094682, 2021 May 13.
Artigo em Inglês | MEDLINE | ID: mdl-34188325

RESUMO

Urologic trauma is frequently reported in patients with penetrating trauma. Currently, the computerized tomography and vascular approach through angiography/embolization are the standard approaches for renal trauma. However, the management of renal or urinary tract trauma in a patient with hemodynamic instability and criteria for emergency laparotomy, is a topic of discussion. This article presents the consensus of the Trauma and Emergency Surgery Group (CTE) from Cali, for the management of penetrating renal and urinary tract trauma through damage control surgery. Intrasurgical perirenal hematoma characteristics, such as if it is expanding or actively bleeding, can be reference for deciding whether a conservative approach with subsequent radiological studies is possible. However, if there is evidence of severe kidney trauma, surgical exploration is mandatory and entails a high probability of requiring a nephrectomy. Urinary tract damage control should be conservative and deferred, because this type of trauma does not represent a risk in acute trauma management.


El trauma renal y de las vías urinarias se presenta con relativa frecuencia en pacientes con trauma penetrante. El estándar actual de manejo es realizar una evaluación imagenológica, por medio de tomografía computarizada y un abordaje vascular, a través de técnicas de angiografía/embolización. Sin embargo, el manejo de un paciente hemodinámicamente inestable con criterios de laparotomía de emergencia, con hallazgos de trauma renal o de vías urinarias es aún tema de discusión. El siguiente articulo presenta el consenso del grupo de Cirugía de Trauma y Emergencias (CTE) de Cali respecto al manejo del trauma penetrante renal y de vías urinarias mediante cirugía de control de daños. Las características intra quirúrgicas del hematoma perirrenal tales como si es expansivo o si tiene signos de sangrado activo, son puntos de referencia para decidir entre un abordaje conservador, por estudios imagenológicos posteriores. En cambio, si existe la sospecha de un trauma renal severo, se debe realizar exploración quirúrgica con alta probabilidad de una nefrectomía. El manejo de control de daños de las vías urinarias debe ser conservador y diferido, la lesión de estos órganos no representa un riesgo en el manejo agudo del trauma.


Assuntos
Tratamento Conservador , Cirurgiões , Sistema Urinário/lesões , Ferimentos Penetrantes/terapia , Algoritmos , Colômbia , Consenso , Embolização Terapêutica , Hematoma/diagnóstico , Hematoma/terapia , Hemorragia/terapia , Humanos , Rim/diagnóstico por imagem , Rim/lesões , Laparotomia , Ilustração Médica , Sistema Urinário/diagnóstico por imagem , Ferimentos Penetrantes/classificação , Ferimentos Penetrantes/diagnóstico por imagem , Ferimentos Penetrantes/cirurgia
18.
Colomb. med ; 52(2): e4024592, Apr.-June 2021. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1249644

RESUMO

Abstract Penetrating torso trauma is the second leading cause of death following head injury. Traffic accidents, falls and overall blunt trauma are the most common mechanism of injuries in developed countries; whereas, penetrating trauma which includes gunshot and stabs wounds is more prevalent in developing countries due to ongoing violence and social unrest. Penetrating chest and abdominal trauma have high mortality rates at the scene of the incident when important structures such as the heart, great vessels, or liver are involved. Current controversies surround the optimal surgical approach of these cases including the use of an endovascular device such as the Resuscitative Endovascular Balloon Occlusion of the Aorta (REBOA) and the timing of additional imaging aids. This article aims to shed light on this subject based on the experience earned during the past 30 years in trauma critical care management of the severely injured patient. We have found that prioritizing the fact that the patient is hemodynamically unstable and obtaining early open or endovascular occlusion of the aorta to gain ground on avoiding the development of the lethal diamond is of utmost importance. Damage control surgery starts with choosing the right surgery of the right cavity in the right patient. For this purpose, we present a practical and simple guide on how to perform the surgical approach to penetrating torso trauma in a hemodynamically unstable patient.


Resumen El trauma penetrante del torso representa la segunda causa de muerte de origen traumático después del trauma craneoencefálico. En países desarrollados existe mayor prevalencia de trauma cerrado, asociado principalmente a accidentes de tránsito o caídas de grandes alturas. Mientas, que en países en vía de desarrollo el trauma penetrante es más prevalente con heridas por arma de fuego o por arma blanca asociado a la violencia y las desigualdades sociales. El trauma penetrante torácico y abdominal pueden presentar altas tasas de mortalidad en la escena del trauma si se comprometen estructuras importantes como el corazón, los grandes vasos o el hígado. Actualmente, existen controversias sobre el adecuado abordaje quirúrgico con la implementación o no de dispositivos endovasculares como el balón de resucitación endovascular de oclusión aórtica (Resuscitative Endovascular Balloon Oclussion of the Aorta - REBOA) y la realización de ayudas imagenológicas. El objetivo de este artículo es presentar el conocimiento sobre este tema, basado en la experiencia adquirida durante los últimos 30 años con el manejo del trauma, cirugía general y cuidado crítico. Sostenemos que en un paciente hemodinámicamente inestable se debe realizar una temprana oclusión aórtica endovascular o abierta con el objetivo de evitar el desarrollo o propagación del rombo de la muerte. Con este propósito, presentamos una guía práctica y sencilla sobre el abordaje quirúrgico del paciente hemodinámicamente inestable con trauma penetrante del torso.

19.
Colomb. med ; 52(2): e4034519, Apr.-June 2021. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1249645

RESUMO

Abstract Definitive management of hemodynamically stable patients with penetrating cardiac injuries remains controversial between those who propose aggressive invasive care versus those who opt for a less invasive or non-operative approach. This controversy even extends to cases of hemodynamically unstable patients in which damage control surgery is thought to be useful and effective. The aim of this article is to delineate our experience in the surgical management of penetrating cardiac injuries via the creation of a clear and practical algorithm that includes basic principles of damage control surgery. We recommend that all patients with precordial penetrating injuries undergo trans-thoracic ultrasound screening as an integral component of their initial evaluation. In those patients who arrive hemodynamically stable but have a positive ultrasound, a pericardial window with lavage and drainage should follow. We want to emphasize the importance of the pericardial lavage and drainage in the surgical management algorithm of these patients. Before this concept, all positive pericardial windows ended up in an open chest exploration. With the coming of the pericardial lavage and drainage procedure, the reported literature and our experience have shown that 25% of positive pericardial windows do not benefit and/or require further invasive procedures. However, in hemodynamically unstable patients, damage control surgery may still be required to control ongoing bleeding. For this purpose, we propose a surgical management algorithm that includes all of these essential clinical aspects in the care of these patients.


Resumen El manejo definitivo de los pacientes hemodinámicamente estables con heridas cardíacas penetrantes continúa siendo controversial con abordajes invasivos versus manejos conservadores. Estas posiciones contrarias se extienden hasta aquellos casos de pacientes hemodinámicamente inestables donde se ha descrito y considerado la cirugía de control de daños como un procedimiento útil y efectivo. El objetivo de este artículo es presentar la experiencia en el manejo quirúrgico de heridas cardíacas penetrantes con la creación de un algoritmo práctico que incluye los principios básicos del control de daños. Se recomienda que a todos los pacientes con heridas precordiales penetrantes se les debe realizar un ultrasonido torácico como componente integral de la evaluación inicial. Aquellos que presenten un ultrasonido torácico positivo y se encuentren hemodinámicamente estables se les debe realizar una ventana pericárdica con posterior lavado. Se ha demostrado que el 25% de las ventanas pericárdicas positivas no se benefician ni requieren de posteriores abordajes quirúrgicos invasivos. Antes de este concepto, todos los pacientes con ventana pericárdica positiva terminaban en una exploración abierta del tórax y del pericárdico. Los pacientes hemodinámicamente inestables requieren de una cirugía de control de daños para un adecuado y oportuno control del sangrado. Con este propósito, se propone un algoritmo de manejo quirúrgico que incluye todos estos aspectos esenciales en el abordaje de este grupo de pacientes.

20.
Colomb. med ; 52(2): e4114425, Apr.-June 2021. tab, graf
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1249647

RESUMO

Abstract Hollow viscus injuries represent a significant portion of overall lesions sustained during penetrating trauma. Currently, isolated small or large bowel injuries are commonly managed via primary anastomosis in patients undergoing definitive laparotomy or deferred anastomosis in patients requiring damage control surgery. The traditional surgical dogma of ostomy has proven to be unnecessary and, in many instances, actually increases morbidity. The aim of this article is to delineate the experience obtained in the management of combined hollow viscus injuries of patients suffering from penetrating trauma. We sought out to determine if primary and/or deferred bowel injury repair via anastomosis is the preferred surgical course in patients suffering from combined small and large bowel penetrating injuries. Our experience shows that more than 90% of all combined penetrating bowel injuries can be managed via primary or deferred anastomosis, even in the most severe cases requiring the application of damage control principles. Applying this strategy, the overall need for an ostomy (primary or deferred) could be reduced to less than 10%.


Resumen El trauma de las vísceras huecas representa una gran proporción de las lesiones asociadas al trauma penetrante. Actualmente, las lesiones aisladas de intestino delgado o colon se manejan a través de anastomosis primaria en pacientes sometidos a laparotomía definitiva o anastomosis diferida en pacientes que requieran cirugía de control de daños. El dogma quirúrgico tradicional de la ostomía se ha probado que es innecesario y en muchos casos puede aumentar la morbilidad. El objetivo de este artículo es describir la experiencia obtenida en el manejo de lesiones combinadas de vísceras huecas de pacientes con trauma penetrante. Se determinó que el manejo primario o diferido del intestino a través de anastomosis es el abordaje quirúrgico preferido en pacientes que presentan lesiones penetrantes combinadas de intestino delgado y colon. Se ha reportado que el 90% de lesiones combinadas penetrantes intestinales pueden ser manejadas a través de anastomosis primaria o diferida incluso en los casos más severos requieren la aplicación de los principios de control de daños. Aplicando esta estrategia, la tasa general para ostomía (primaria o diferida) puede ser reducida a menos del 10%.

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