Evaluación funcional de niños, niñas y adolescentes con diagnóstico de trastorno del espectro autista en Argentina: estudio multicéntrico TEA-CIFunciona / Functional assessment of children and adolescents with autism spectrum disorder in Argentina: ICF-ASD multicenter study

Introducción. El trastorno del espectro autista (TEA) se caracteriza por dificultades de comunicación social y comportamientos repetitivos y estereotipados. Además de la categoría diagnóstica, las actividades que los niños, niñas y adolescentes (NNyA) pueden realizar y la participación social son los aspectos principales por considerar desde el marco de la Clasificación Internacional del Funcionamiento, la Discapacidad y la Salud (CIF), propuesta por la Organización Mundial de la Salud, para describir los estados de salud. En una investigación previa, elaboramos la primera versión de una herramienta pediátrica basada en la CIF llamada TEA-CIFunciona para evaluación funcional de NNyA con diagnóstico de TEA, que permitió captar características funcionales adaptadas a nuestro contexto cultural. Se propuso como objetivo posterior aplicar TEA-CIFunciona en formato multicéntrico para evaluar NNyA de diferentes regiones, revisar y actualizar la herramienta, e identificar barreras y facilitadores. Población y métodos. Se administró TEA-CIFunciona versión 1.0 a NNyA con diagnóstico confirmado de TEA (según criterios del DSM-5), menores de 16 años, en seguimiento en cinco centros de atención pediátrica del país. Resultados. Se obtuvo la versión 2.0 de TEA-CIFunciona con 34 categorías (10 funciones corporales, 15 actividades y participación, y 9 factores ambientales). Se elaboró el perfil funcional de la muestra completa (n = 308). Conclusiones. La versión actualizada de TEA-CIFunciona contribuye a estandarizar y a sistematizar la obtención de información necesaria para adecuar el seguimiento de los NNyA con TEA a nivel nacional. Además, permite identificar barreras por superar y facilitadores para generalizar

Introduction. Autism spectrum disorder (ASD) is characterized by difficulties in social communication and repetitive and stereotyped behaviors. In addition to the diagnostic category, the activities performed by children and adolescents and their social involvement are the main aspects to be considered according to the International Classification of Functioning, Disability, and Health (ICF) proposed by the World Health Organization to describe health status. In a previous study, we developed the first version of a pediatric tool based on the ICF called ICF-ASD for the functional assessment of children and adolescents with ASD to capture functional characteristics adapted to our cultural setting. Our subsequent objective was to apply the ICF-ASD in a multicenter format to assess children and adolescents from different regions, review, and update it, and identify barriers and facilitators. Population and methods. The ICF-ASD version 1.0 was administered to children and adolescents younger than 16 years with a confirmed diagnosis of ASD (as per DSM-5 criteria), who were receiving follow-up at 5 children's health centers across Argentina. Results. Version 2.0 of the ICF-ASD was obtained, which included 34 categories (10 under body function, 15 under activities and participation, and 9 under environmental factors). A functional profile was developed for the whole sample (n = 308). Conclusions. The updated version of the ICF-ASD helps to standardize and systematize the collection of necessary data for an adequate follow-up of children and adolescents with ASD at a national level. It also allows to identify barriers to overcome and facilitators to be generalized

Tumores del sistema nervioso central. Clasificación de la Organización Mundial de la Salud 2021. Hacia un cambio de paradigma / Tumors of the central nervous system. Classification of the World Health Organization 2021. Towards a paradigm shift

El estudio de los tumores del sistema nervioso central (SNC) resulta ser un tema de gran consideración y su conocimiento reviste una alta importancia en la práctica médica. Las clasificaciones de las neoplasias del SNC comenzaron a mediados del siglo XIX hasta que en 1979 la Organización Mundial de la Salud (OMS) publicó la primera edición de una sistemática útil con el objetivo de establecer un lenguaje común para todas las especialidades médicas. Al día de hoy, 5 ediciones actualizaron la taxonomía neoplásica. La quinta edición del año 2021 consolida el cambio de paradigma dado por los avances moleculares, si bien todavía la transición se encuentra en proceso entre la caracterización morfológica y la biológica molecular. En este artículo, se analizan las nuevas modificaciones incorporadas en las diferentes familias tumorales más frecuentes en pediatría haciendo hincapié en aquella información de utilidad para el médico pediatra en su práctica diaria y la consulta multidisciplinaria.

The study of central nervous system (CNS) tumors is a subject of great interest and such knowledge is of great importance in medical practice. The classifications of CNS neoplasms began in the mid-19 th century, until the World Health Organization (WHO) published, in 1979, the first edition of a useful systematic review for the purpose of establishing a common language for all medical specialties. To date, 5 updated editions of neoplastic taxonomy have been published.The fifth edition, from 2021, consolidates the paradigm shift brought about by molecular advances, although the transition between morphological and molecular biological characterization is still in progress. In this article, the new modifications introduced in the different most frequent families of tumors in pediatrics are analyzed, emphasizing useful information for pediatricians in their daily practice and multidisciplinary consultations.

Effectiveness and safety of neoadjuvant therapy in triple-negative breast cancer in a real-world population. / [Artículo traducido] Efectividad y seguridad del tratamiento neoadyuvante del cáncer de mama triple negativo en la vida real.

OBJECTIVE: Triple-negative breast cancer is a subtype of aggressive breast cancer. Our aim is to evaluate the effectiveness and safety of neoadjuvant treatment in early-stage triple-negative breast cancer and to identify predictors of pathological complete response. METHODS: This is a single-center, retrospective study involving 79 patients with triple-negative breast cancer who initiated neoadjuvant treatment between January 2017 and October 2022. Descriptive analyses were performed as appropriate. Statistical analysis utilized bivariate logistic regression to explore the presence of factors related to pathological complete response, and the Kaplan-Meier method was employed for survival analysis. RESULTS: In the overall population, 27 patients (n = 78; 34.6%) achieved pathological complete response in the breast and axillary lymph nodes, and 31 (n = 73; 42.5%) achieved a grade 5 pathological complete response in the breast, according to the Miller and Payne classification. The addition of platinum to standard therapy improved both breast and axillary lymph node pathological complete response rates. Age less than 40 years was identified as a predictor of pathological complete response in our study population through bivariate analysis, while Ki67 levels lower than 70% were associated with a lower pathological complete response rate. Adverse events were reported in 72 patients (91.1%), with grade 3-5 adverse events observed in 33 (41.8%). There was a particularly notable increase in gastrointestinal and hematological adverse events when platinum was added. CONCLUSIONS: In this population, we observed moderate rates of pathological complete response with acceptable chemotherapy tolerance. Platinum-based chemotherapy appears to enhance the likelihood of achieving pathological complete response, albeit with a less favorable safety profile. Therefore, evaluating the benefit-risk balance is crucial when selecting the optimal chemotherapy regimen for individual patients.

Resumen: Consenso internacional para la nomenclatura y clasificación de la válvula aórtica bicúspide congénita y su aortopatía, con fines clínicos, quirúrgicos, intervencionistas y de investigación / Summary: International consensus statement on nomenclature and classification of the congenital bicuspid aortic valve and its aortopathy, for clinical, surgical, interventional and research purposes

resumen está disponible en el texto completo

Abstract This consensus of nomenclature and classification for congenital bicuspid aortic valve and its aortopathy is evidence-based and intended for universal use by physicians (both pediatricians and adults), echocardiographers, advanced cardiovascular imaging specialists, interventional cardiologists, cardiovascular surgeons, pathologists, geneticists, and researchers spanning these areas of clinical and basic research. In addition, as long as new key and reference research is available, this international consensus may be subject to change based on evidence-based data1.

Random Forest in plant genetics and breeding: an application in tomato as a model crop / Random Forest en genética y mejoramiento genético de plantas: una aplicación en tomate como cultivo modelo

ABSTRACT Random Forest approaches have been used in phenotyping at both morphological and metabolic levels and in genomics studies, but direct applications in practical situations of plant genetics and breeding are scarce. Random Forest was compared with Discriminant Analysis for its ability in classifying tomato individuals belonging to different breeding populations, exclusively based on phenotypic fruit quality traits. In order to take into account different steps in breeding programs, two populations were assayed. One was composed by a set of RILs derived from an interspecific tomato cross, and the other was composed by two of these RILs and the corresponding F1, F2 and backcross generations. Being tomato an autogamous species, the first population was considered a final step in breeding programs because promising genotypes are being evaluated for putative commercial release as new cultivars. Meanwhile, the second one, in which new variation is being generated, was considered as an initial step. Both Random Forest and Discriminant Analysis were able to classify populations with the aim of evaluating general variability and identifying the traits that most contribute to this variability. However, overall errors in classification were lower for Random Forest. When comparing the adequacy of classification between populations, errors of both statistical analyses were greater in the second population than in the first one, though Random Forest was more precise than Discriminant Analysis even in this initial step of plant breeding programs. Random Forest allowed breeders to get a reliable classification of tomato individuals belonging to different breeding populations.

RESUMEN Los enfoques de Random Forest se han utilizado en la fenotipificación, tanto a nivel morfológico como metabólico, y en estudios de genómica, pero las aplicaciones directas en situaciones prácticas de fitomejoramiento y genética son escasas. Random Forest se comparó con el Análisis Discriminante por su capacidad en la clasificación de individuos de tomate pertenecientes a diferentes poblaciones de mejoramiento, exclusivamente en función de los rasgos fenotípicos de calidad de la fruta. Para tener en cuenta los diferentes pasos en los programas de mejoramiento, se ensayaron dos poblaciones. Una estaba compuesta por un conjunto de RILs derivadas de un cruce interespecífico de tomate, y la otra estaba compuesta por dos de estas RILs y las correspondientes generaciones F1, F2 y retrocruzas. Siendo el tomate una especie autógama, la primera población se consideró un paso final en los programas de mejoramiento porque se están evaluando genotipos prometedores para su lanzamiento comercial putativo como nuevos cultivares. Mientras tanto, la segunda, en la que se está generando nueva variación, se consideró como un paso inicial. Tanto Random Forest como Análisis Discriminante pudieron clasificar poblaciones con el objetivo de evaluar la variabilidad general e identificar los rasgos que más contribuyen a esta variabilidad. Sin embargo, los errores generales en la clasificación fueron menores para Random Forest. Al comparar la adecuación de la clasificación entre poblaciones, los errores de ambos análisis estadísticos fueron mayores en la segunda población que en la primera, aunque Random Forest fue más preciso que el Análisis Discriminante incluso en este paso inicial de los programas de fitomejoramiento. Random Forest permitió a los criadores obtener una clasificación fiable de individuos de tomate pertenecientes a diferentes poblaciones de cría.

IgG4-related disease: Effectiveness evaluation through Umehara-Okazaki 2011 and ACR/EULAR 2019 diagnostic criteria.

BACKGROUND: IgG4-related disease (IgG4-RD) is a rare, systemic immune-mediated fibro-inflammatory condition with an unclear etiology and pathophysiology, potentially affecting multiple organs. It presents with common clinical, radiological, and serological characteristics. This study aims to compare the latest two IgG4-RD classification and diagnostic criteria: Umehara-Okazaki 2011 and ACR/EULAR 2019. MATERIAL AND METHODS: In a retrospective cross-sectional study conducted across two centers from January 2010 to July 2023, we included patients suspected of having IgG4-RD from various hospital departments. Patients finally diagnosed with other pathologies were excluded. The remaining suspected IgG4-RD cases were evaluated using both Umehara-Okazaki 2011 and ACR/EULAR 2019 criteria. RESULTS: Out of 34 patients with a clinical diagnosis of IgG4-RD, the Umehara-Okazaki 2011 classified 20 patients: 5 as definitive, 7 as probable, and 8 as possible cases. Applying the ACR/EULAR 2019 criteria to the same cohort resulted in the diagnosis of 9 patients. Notably, retroperitoneal fibrosis and aortitis were the most prevalent form of presentation, accounting for 25% and 22.2% of cases classified under the 2011 and 2019 criteria, respectively. DISCUSSION: The more recent and stringent ACR/EULAR 2019 criteria focus on histopathology, various forms of presentation, and analytical data, allow for a more accurate classification of patients.

Funcionalidade familiar por meiodo instrumento APGAR: avaliaçãodas produções / Family functionality through the APGAR instrument: evaluation of productions

Objetivo: Sintetizar e descrever o que há produzido referente a funcionalidade familiar por meio do uso do instrumento APGAR familiar. Método: O estudo se sustenta na revisão do tipo integrativa de literatura de cunho narrativo, possibilitando a análise do conhecimento científico já produzido sobre o tema investigado. Resultados: A partir dos resultados da revisão integrativa, foi possível a formação de 02 (duas) categorias, como: Categoria 1-APGAR familiar na avaliação das relações cuidadores/familiares do idoso (60 a 100 anos). Categoria 2-Função familiar no cuidado a portadores de situações crônicas, como patologias oncológicas e patologias psiquiátricas. Conclusão: O estudo conseguiu concluir seus objetivos uma vez que os achados sugerem questões significativa concernente à família, pois, detém notoriedade, propiciando a conservação da integridade do ser humano em seus profusos aspectos.(AU)

Objective: To synthesize and describe what has been produced regarding family functionality through the use of the family APGAR instrument. Method: The study is based on an integrative review of narrative literature, enabling the analysis of scientific knowledge already produced on the topic investigated. Results: Based on the results of the integrative review, it was possible to form 02 (two) categories, such as: Category 1-Family APGAR in the assessment of caregiver/family relationships of the elderly (60 to 100 years old). Category2-Family role in caring for people with chronic conditions, such as oncological pathologies and psychiatric pathologies. Conclusion: The study managed to complete its objectives since the findings suggest significant issues concerning the family, as it holds notoriety, enabling the conservation of the integrity of the human being in its profuse aspects.(AU)

Objetivo: Sintetizar y describir lo producido sobre la funcionalidad familiar mediante el uso del instrumento APGAR familiar. Método: El estudio se basa en una revisión integradora de la literatura narrativa, posibilitando el análisis del conocimiento científico ya producido sobre el tema investigado. Resultados: Con base en los resultados de la revisión integradora, fue posible formar 02 (dos) categorías, tales como: Categoría 1-APGAR Familiar en la evaluación de las relaciones cuidador/familiar del anciano (60 a 100 años). Categoría2-Papel familiar en el cuidado de personas con enfermedades crónicas, como patologías oncológicas y patologías psiquiátricas. Conclusión: El estudio logró cumplir sus objetivos ya que los hallazgos sugieren cuestiones significativas relativas a la familia, ya que ésta goza de notoriedad, permitiendo la conservación de la integridad del ser humano en sus aspectos profusos.(AU)

Comparison and combination of three data sources from patient medical records to determine optimal quantification of postoperative morbidity according to the Clavien Dindo Classification and the Comprehensive Complication Index. A prospective study.

INTRODUCTION: It is currently unknown which data sources from the clinical history, or combination thereof, should be evaluated to achieve the most complete calculation of postoperative complications (PC). The objectives of this study were: to analyze the morbidity and mortality of 200 consecutive patients undergoing major surgery, to determine which data sources or combination collect the maximum morbidity, and to determine the accuracy of the morbidity reflected in the discharge report. METHODS: Observational and prospective cohort study. The sum of all PC found in the combined review of medical notes, nursing notes, and a specific form was considered the gold standard. PC were classified according to the Clavien Dindo Classification and the Comprehensive Complication Index (CCI). RESULTS: The percentage of patients who presented PC according to the gold standard, medical notes, nursing notes and form were: 43.5%, 37.5%, 35% and 18.7% respectively. The combination of sources improved CCI agreement by 8%-40% in the overall series and 39.1-89.7 % in patients with PC. The correct recording of PC was inversely proportional to the complexity of the surgery, and the combination of sources increased the degree of agreement with the gold standard by 35 %-67.5% in operations of greater complexity. The CDC and CCI of the discharge report coincided with the gold-standard values in patients with PC by 46.8% and 18.2%, respectively. CONCLUSIONS: The combination of data sources, particularly medical and nursing notes, considerably increases the quantification of PC in general, most notably in complex interventions.

Effectiveness and safety of neoadjuvant therapy in triple-negative breast cancer in a real-world population.

OBJECTIVE: Triple-negative breast cancer is a subtype of aggressive breast cancer. Our aim is to evaluate the effectiveness and safety of neoadjuvant treatment in early-stage triple-negative breast cancer and to identify predictors of pathological complete response. METHODS: This is a single-center, retrospective study involving 79 patients with triple-negative breast cancer who initiated neoadjuvant treatment between January 2017 and October 2022. Descriptive analyses were performed as appropriate. Statistical analysis utilized bivariate logistic regression to explore the presence of factors related to pathological complete response, and the Kaplan-Meier method was employed for survival analysis. RESULTS: In the overall population, 27 patients (n=78; 34.6%) achieved pathological complete response in the breast and axillary lymph nodes, and 31 (n=73; 42.5%) achieved a grade 5 pathological complete response in the breast, according to the Miller and Payne classification. The addition of platinum to standard therapy improved both breast and axillary lymph node pathological complete response rates. Age less than 40 years was identified as a predictor of pathological complete response in our study population through bivariate analysis, while Ki67 levels lower than 70% were associated with a lower pathological complete response rate. Adverse events were reported in 72 patients (91.1%), with grade 3-5 adverse events observed in 33 (41.8%). There was a particularly notable increase in gastrointestinal and hematological adverse events when platinum was added. CONCLUSIONS: In this population, we observed moderate rates of pathological complete response with acceptable chemotherapy tolerance. Platinum-based chemotherapy appears to enhance the likelihood of achieving pathological complete response, albeit with a less favorable safety profile. Therefore, evaluating the benefit-risk balance is crucial when selecting the optimal chemotherapy regimen for individual patients.

Escoliosis idiopática del adolescente / Adolescent idiopathic scoliosis

La escoliosis idiopática del Adolescente (EIA) es una deformidad tridimensional de la columna vertebral que aqueja de diversas formas la condición de vida de quien la padece, afectando el desarrollo físico y psicológico del paciente. Proponemos evaluar el resultado clínico, radiológico y el componente de calidad de vida de pacientes tratados quirúrgicamente con EIA, en el servicio de Neurocirugía, Hospital Jesús Yerena del Lídice. Se evaluó patrón de la curva, clasificación según Lenke, ángulo de Cobb pre y postquirúrgico, edad de tratamiento quirúrgico, gradode corrección, calidad de vida según cuestionario SRS-22 pre y postquirúrgica, valoración funcional mediante la escala de discapacidad de Oswestry (ODI) y complicaciones postoperatorias. Se estudiaron 22 casos (95 % femenino), el principal grupo etario fue de 11-14 años (55 %), la escoliosis tipo 1 fue la predominante (60 %), el ángulo de Cobb inicial fue mayor a 50° (50 %) y la madurez esquelética principal fue Risser 3 (55 %). La edad de resolución quirúrgica predominante fue entre 15-18 años (60 %), el grado de corrección postoperatorio fue de 75-100 % (73 %) y la densidad de los tornillos pediculares fue de 1.4-1.7 (64 %). En el cuestionario SRS-22, hubo mayor afectación en las dimensiones de autoimagen con una media de 1.8 y la valoración por ODI mostró un índice de incapacidad mínima, que fue mejorando en los controles sucesivos. Nuestra principal complicación fueron las infecciones (36 %). Concluimos que la cirugía correctiva temprana en la EIA ofrece a una mejoría clínica, radiológica y de la calidadde vida de estos paciente(AU)

Adolescent idiopathic scoliosis (AIS) is a three-dimensional deformity of the spine that affects the living condition of those who suffer from it in various ways, affecting the physical and psychological development of the patient. We propose to evaluate the clinical and radiological outcome and the quality-of-life component of patients treated surgically with EIA, in the Neurosurgery Service, Hospital Jesús Yerena del Lídice. Curve pattern, Lenke classification, pre-and post-surgical Cobb angle, age at surgical treatment, degree of correction, quality of life according to pre-and post-surgical SRS-22 questionnaire, functional assessment using the Oswestry Disability Scale (ODI) and postoperative complications were evaluated. 22 cases were studied (95% female), the main age group was 11-14 years (55%), type 1 scoliosis was predominant (60%), the initial Cobb angle was greater than 50° (50%) and the main skeletal maturity was Risser 3 (55%). The predominant age of surgical resolution was between 15-18 years (60%), the degree of postoperative correction was 75-100% (73%) and the density of pedicle screws was 1.4-1.7 (64%). In the SRS-22 questionnaire, there was greater impairment in the self-image dimensions with a mean of 1.8 and the ODI assessment showed aminimal disability index, which improved in successive controls. Our main complication was infections (36%). We conclude that early corrective surgery in AIS offers clinical, radiological and quality of life improvement for these patient(AU)

[Disability Degree Assessment: A Comprehensive Approach According to Royal Decree 888/2022]. / Evaluación del grado de discapacidad: un enfoque integral según el Real Decreto 888/2022.

BACKGORUND AND OBJECTIVE: Royal Decree 888/2022 establishes that the evaluation of disability situations is carried out by multiprofessional teams responsible for assessing and recognizing the degree of disability. The participation of professionals in the healthcare and social fields can be valuable in providing reports from which the necessary data for the proper assessment of disability can be obtained, with the ultimate goal of providing comprehensive assistance to people with disabilities. MATERIALS AND METHODS: An analysis and summary of Royal Decree 888/2022, which has recently come into effect, is performed, focusing on the most relevant aspects for professionals in the healthcare and social fields. RESULTS: The recognition and classification of the degree of disability are the responsibility of the autonomous communities, and the assessments are issued by multiprofessional teams. To do this, four components are evaluated using the criteria outlined in the annexes of the Royal Decree itself. Each criterion generates a score that is combined to obtain a single score, the Final Disability Degree of the Person. CONCLUSIONS: The pathology that causes the disability must have been previously diagnosed by the Healthcare System and considered permanent. Its evaluation is based on the evidence of objective clinical findings that are documented and supported by clinical reports. For this reason, it is important to maintain an accurate medical history, document reviews, and provide all relevant evidence.

Lesiones de la vía biliar

La finalidad de esta revisión es mostrar el estado actual de las lesiones de vía biliar (LVB), producidas especialmente durante la colecistectomía laparoscópica. Revisaremos la etiopatogenia, los grados de compromiso biliar, las lesiones vasculares asociadas, las clasificaciones utilizadas y los factores de riesgo. Además la forma como evaluar oportunamente la magnitud de la lesión, tanto en la misma cirugía como en el postoperatorio. Igualmente se muestran las diversas alternativas terapéuticas empleadas. Todo con la finalidad de evitar graves complicaciones.

The purpose of this review is to show the current status of bile duct injury, specially produced during laparoscopic cholecystectomy. We will review etiopathogenesis, degrees of bile commitment, associated vascular lesions, classifications used and risk factors. In addition, how to assess the extent of the injury in a timely manner, both in the same surgery and in the postoperative surgery. The various therapeutic alternatives used are also shown. All in order to avoid serious complications.

Consenso colombiano para el diagnóstico molecular del cáncer de endometrio / Colombian consensus for the molecular diagnosis of endometrial cancer

resumen está disponible en el texto completo

ABSTRACT Objective: The Cancer Genome Atlas research program (TCGA) developed the molecular classification for endometrial cancer with prognostic and therapeutic utility, which was replaced by the ProMisE (Proactive Molecular Risk Classifier for Endometrial Cancer) classification by consensus and international guidelines due to its high cost. This article aims to present national recommendations from an expert consensus that allows unification and implementation of the molecular classification for women with endometrial cancer nationwide, with a rational use of resources and technology. Methods: Consensus of 36 experts in clinical oncology, oncological gynecology, pathology, and genetics, with clinical practice in the national territory. The leader group performed a literature review and structuring of questions rated 1 to 9 points. A modified nominal group technique was used. There was a face-to-face meeting with master presentations, deliberative dialogue, and Google Forms (Google LLC, Mountain View, CA, USA) questionnaire voting with analysis and discussion of responses. The non-consensual responses led to a second round of voting. The final manuscript was finally prepared and revised. Results: Seven recommendations were formulated integrating the panelist responses based on evidence, but adjusted to the Colombian context and reality. Recommendation 1. The molecular classification is recommended in all the endometrial cancers using the immunohistochemistry markers as subrogated results from the molecular profile initially proposed in the TCGA classification. Recommendation 2. The sequential test strategy is recommended, starting with the immunohistochemistry markers (p53, MLH1, MSH 2, MSH6, PMS2) simultaneously in all the patients, defining to request POLE (DNA polymerase epsilon) (if available) according to the risk classification based on the surgical piece. Recommendation 3. It is recommended, that the gynecologist oncologist should be the one to request the POLE (if available) according to the final pathology report. This test must be requested for all endometrial cancers stage I-II, except in low risk (stage IA low grade endometrioid histology without linfovascular invasion normal p53) and, stages III-IV without residual disease, without affecting the request of subrogated immunohistochemistry molecular markers upon histology. The consensus proposes that the POLE is requested after the immunohistochemistry and according to the categories in the risk classification established by the 2020 ESGO/ESTRO/ESP guidelines. Recommendation 4. It is recommended to perform immunohistochemistry for hormonal receptors for all women with endometrial cancer and the HER2 in patients with p53abn, simultaneously with the others immunohistochemistry markers. Recommendation 5. It is recommended to perform the immunohistochemistry markers (p53, MLH1, MSH2, MSH6 y PMS2) in an initial endometrial biopsy or curettage when the specimen is adequate and available. In case the initial immunohistochemistry is inconclusive, or there are histological discrepancies between the initial and definitive pathology, it is recommended to repeat the molecular profile in the surgical pathology. The immunohistochemistry markers must be reported in the pathology report according to the CAP (College of American Pathologists) recommendations, independently of the type of sample. Recommendation 6. It is recommended to perform MLH1 promoter methylation testing in patients who exhibit loss of expression of MLH1 in immunohistochemistry whether it is accompanied or not with loss of expression of PMS2. All the patients with deficient MMR (mismatch repair), should be sent for genetic counseling to rule out Lynch syndrome. Recommendation 7. It is recommended to consider the molecular classification in addition to the classical histopathological criteria when making adjuvant judgments, as incorporated by the classification of prognostic groups of the 2020 ESGO/ESTRO/ESP guidelines. Conclusions: It is necessary to implement the molecular classification of endometrial cancer in clinical practice in accordance to the Colombian context, due to its prognostic and probably predictive value. This will enable the characterization of the Colombian population in order to offer individualized guided treatments. This is an academic and non-regulatory document.

Reflexiones para optimizar el triaje en cirugía / Reflections to optimize triage in surgery

Introducción: La categorización de las urgencias quirúrgicas es una necesidad en razón al continuo desequilibrio entre la oferta y la demanda de servicios quirúrgicos en la mayoría de las instituciones donde se encuentra habilitada la prestación del servicio. Hay abordajes en el tema, con estrategias de priorización de los casos quirúrgicos, que consideran escalas y flujogramas, pero su ausente validez externa y las particularidades de las instituciones y aseguradores, han limitado una generalización de los resultados. Métodos: Se efectúa una conceptualización del triaje de las urgencias quirúrgicas con planteamientos críticos y reflexivos soportados en la evidencia. Se identifican, asimismo, las posibles oportunidades para la investigación. Discusión: Los beneficios potenciales de un triaje quirúrgico en situaciones de urgencia, son extensivos a todos los actores del sistema de salud, disminuyen la posibilidad de desenlaces y repercusiones económicas negativas para las instituciones y los aseguradores. La teoría de las colas ofrece el soporte para un entendimiento del tema y contribuye en las soluciones. Su adopción es escasa como parte de una estrategia local de priorización quirúrgica en un contexto de urgencia. Conclusión:La creación de estrategias que establezcan el triaje para el paciente con una urgencia quirúrgica están influenciadas por la participación continua y efectiva de los actores involucrados en el proceso y en su impacto en los desenlaces clínicos

Introduction: Categorizing surgical emergencies is necessary due to the continued imbalance between the supply and demand of surgical services in most institutions where the service is enabled. There are approaches to the subject, with strategies for prioritizing surgical cases, which consider scales and flowcharts, but their lack of external validity and the particularities of the institutions and insurers have limited the generalization of the results. Methods: A conceptualization of the triage of surgical emergencies is carried out with critical and reflective approaches supported by evidence. Potential research opportunities are also identified. Discussion: The potential benefits of surgical triage in emergent situations are extensive to all health system actors, reducing the possibility of adverse outcomes and economic repercussions for institutions and insurers. Queuing theory offers support for understanding the issue and contributes to solutions. However, its adoption is scarce in an emergency as part of a local surgical prioritization strategy. Conclusion: The creation of strategies that establish triage for the patient with a surgical emergency is influenced by the continuous and effective participation of the actors involved in the process and its impact on clinical outcomes

Caracterización histológica del melanoma cutáneo en reportes de patología en la ciudad de Cali, 2016-2021 / Histological characterization of cutaneous melanoma in pathology reports in the city of Cali, 2016-2021

Introducción. El melanoma es la proliferación maligna de melanocitos asociado a un comportamiento agresivo. El objetivo de este estudio fue determinar las variables histológicas del melanoma cutáneo. Métodos. Estudio observacional retrospectivo, transversal descriptivo, realizado con reportes de patologías de pacientes con diagnóstico de melanoma cutáneo en un laboratorio de patología en Cali, Colombia, entre 2016-2021. Se incluyeron las variables edad, sexo, localización, subtipo, espesor de Breslow, ulceración, márgenes, mitosis, invasión linfovascular, neurotrofismo, regresión tumoral, nivel de Clark e infiltración tumoral por linfocitos. Resultados. Se obtuvieron 106 reportes y fueron excluidos 54 por duplicación. Se incluyeron 52 registros, la media de edad fue de 61 años, con una mayor frecuencia de mujeres (55,8 %). De los 33 casos donde se especificó el subtipo histológico, el más frecuente fue el de extensión superficial (66,6 %), seguido del acral lentiginoso (18,1 %) y nodular con (15,2 %). La localización más frecuente fue en extremidades (61,5 %). El espesor de Breslow más común fue IV (34,6 %) y el nivel de Clark más frecuente fue IV (34,6 %). La ulceración estuvo en el 40,4 %. El subtipo nodular fue el de presentación más agresiva, donde el 100 % presentaron espesor de Breslow IV. Conclusiones. El subtipo de melanoma más común en nuestra población fue el de extensión superficial; el segundo en frecuencia fue el subtipo acral lentiginoso, que se localizó siempre en extremidades. Más del 50 % de los melanomas tenían espesor de Breslow mayor o igual a III, lo que impacta en el pronóstico.

Background. Melanoma is the malignant proliferation of melanocytes associated with aggressive behavior. The objective of this study was to determine the histological variables of cutaneous melanoma. Methods. Observational, cross-sectional, descriptive, retrospective study carried out with reports of pathologies with a diagnosis of cutaneous melanoma in a pathology laboratory in Cali between 2016-2021. The variables were age, sex, location, subtype, Breslow thickness, ulceration, margins, mitosis, lymphovascular invasion, neurotropism, tumoral regression, Clark level and tumor infiltration by lymphocytes. Results. One hundred and six reports were obtained and 54 were excluded due to duplication. A descriptive analysis was made on the 52 records that were included, the mean age was 61 years, with a higher frequency in women with 55.8%. Of the 33 cases where the histological subtype was specified, the most frequent was superficial extension with 66.6%, followed by acral lentiginous with 18.1% and nodular with 15.2%. The most frequent location was in the extremities (61.5%); the most common Breslow was IV (34.6%), and the most frequent Clark was IV (34.6%). Ulceration was in 40.4%. The nodular subtype was the most aggressive presentation where 100% presented Breslow IV. Conclusions. The most common subtype of melanoma was that of superficial extension. In our population, the second most frequent was the acral lentiginous subtype, which was always located on the extremities. More than 50% of the melanomas had Breslow greater than or equal to III, which affects the prognosis.

Avaliação de incapacidade em pessoas com doença falciforme / Disability assessment in people with sickle cell / Evaluación de la discapacidad en personas con enfermedad de células falciformes

A expectativa de vida das pessoas com doença falciforme (DF) é baixa, e o agravamento da condição de saúde é frequente, gerando incapacidades. Todavia, pouco é conhecido sobre tais incapacidades com base na Classificação Internacional de Funcionalidade, Incapacidade e Saúde (CIF). Assim, o objetivo do estudo foi descrever as incapacidades de adultos com DF. Realizou-se um estudo transversal descritivo, com 60 adultos com DF, de ambos os sexos. Informações sociodemográficas, fatores clínicos relacionados ao tipo de DF foram autorreferidos pelos participantes. As incapacidades foram avaliadas por meio da Escala de Avaliação de Incapacidade da Organização Mundial da Saúde (WHODAS 2.0) nos seguintes domínios: cognição, mobilidade, autocuidado, relações interpessoais (convivência com as pessoas), atividades de vida e participação na sociedade. Em cada domínio, foi definida incapacidade quando o sujeito relatou dificuldade leve, moderada, grave ou extrema de desempenhar a tarefa. Os dados foram analisados por estatística descritiva (frequências relativas). Os resultados mostraram valores elevados em todos os domínios avaliados, com destaque para dificuldades de concentração (90%) e desempenho nas tarefas domésticas (93,3%) e impacto da situação de saúde nas finanças do sujeito/família (96,7%). Os dados deste estudo mostraram que adultos com DF apresentam elevados índices de incapacidade, especialmente no domínio cognitivo, nas atividades de vida e na participação social.

Life expectancy of people living with sickle cell disease (SCD) is in general low and the worsening of their health condition is frequent, resulting in disabilities. However, knowledge about those disabilities based on the International Classification of Functioning, Disability and Health (ICF) is scarce. Thus, this study aimed to describe the disabilities of adults with SCD. A descriptive cross-sectional study was carried out with 60 adults with SCD of both sexes. Sociodemographic and clinical factors related to the type of SCD were self-reported by the participants. Disabilities were assessed by the World Health Organization Disability Assessment Schedule (WHODAS 2.0), in the following domains: cognition, mobility, selfcare, getting along with people, life activities, and participation in society. In each domain, disability was defined when the participant self-reported light, moderate, severe, extreme difficulty, or inability to perform the task. Data analysis included descriptive statistics (relative frequencies). The results showed high values in all domains evaluated, with emphasis on difficulties on concentrating (90%) and performing household chores (93.3%) and on the impact of health condition on subject/family's financial situation (96.7%). The data from this study shows that adults with SCD present high disability levels, especially on the cognitive domain, on life activities, and on social participation.

Las personas con enfermedad de células falciformes (ECF) tienen una baja esperanza de vida, y el empeoramiento de su estado de salud es frecuente, generando discapacidades. Sin embargo, estas discapacidades son poco conocidas según la Clasificación Internacional del Funcionamiento, de la Discapacidad y de la Salud (CIF). El objetivo de este estudio fue describir las discapacidades de adultos con ECF . Se realizó un estudio transversal, descriptivo, con 60 adultos con ECF, de ambos sexos. Los factores sociodemográficos y clínicos relacionados con el tipo de ECF fueron autoinformados. Las discapacidades se evaluaron mediante la Escala de Evaluación de la Discapacidad de la Organización Mundial de la Salud (WHODAS 2.0), en los dominios de cognición, movilidad, autocuidado, convivencia con personas, actividades de la vida y participación en la sociedad. La discapacidad se definió mediante un reporte de dificultad o incapacidad leve, moderada, grave, extrema del individuo para realizar una tarea. Los datos fueron analizados por estadística descriptiva (frecuencias relativas). Los resultados mostraron altos valores de discapacidad en todos los dominios evaluados, con énfasis en las dificultades de concentración (90%), el desempeño en las tareas domésticas (93,3%) y el impacto de la situación de salud en las finanzas del sujeto/familia (96,7%). Los datos de este estudio mostraron que los adultos con ECF tienen altas tasas de discapacidad, especialmente en los dominios cognitivo, actividades de la vida y participación social.

Results of surgical treatment of lymph node metastases in patients with cutaneous squamous cell carcinoma of the head and neck.

INTRODUCTION: Out of all cutaneous squamous cell carcinomas originating in the head and neck (HNCSCC), 2-4% are associated with parotid or cervical lymph node metastasis. The aim of this study is to analyse the prognostic factors of patients with HNCSCC with lymph node involvement treated surgically. Additionally, we aim to compare the prognostic capacity of the classification of these patients according to the 8th edition of the TNM, and an alternative classification proposed by O'Brien et al. PATIENTS AND METHODS: Retrospective review of 65 patients with HNCSCC with lymph node metastasis treated surgically during the period 2000-2020. RESULTS: During the study period we carried out 13 neck dissections and 52 parotidectomies + neck dissection in patients with lymph node metastases from a HNCSCC. The great majority of patients (89.2%) received post-operative radiotherapy. The 5 year disease-specific survival was 69.9%, and the overall survival it was 42.8%. The classification proposed by O'Brien et al., based on the parotid or cervical location of the lymph node metastases, and the size and number of the metastatic lymph nodes, had a better prognostic capacity than the TNM classification. CONCLUSIONS: The surgical treatment of lymph node metastases in patients with HNCSCC achieved a high disease control. The classification based on the location, size and number of lymph node metastases proposed by O'Brien et al had better prognostic capacity than the TNM classification.

Gluteal Hidradenitis Suppurativa: Analysis of 83 Patients.

BACKGROUND: In 2013, Canoui-Poitrine et al. identified three hidradenitis suppurativa (HS) phenotypes by a latent class (LC) analysis, based on anatomical sites of involvement. OBJECTIVE: To improve the classification of the gluteal phenotype (LC3) patients given their diverse lesion types and differences in clinical profile. MATERIAL AND METHODS: We designed a bicentric study gathering all LC3 patients (n=83) from two hospitals. We conducted a two-step cluster analysis among them and also compared their characteristics with the rest of the HS patients (n=661). RESULTS: Compared with global HS series, LC3 patients were more frequently non-obese men, with smoking habit, an associated arthropathy, and a more frequent history of pilonidal sinus. The analysis of LC3 patients yielded two clusters: cluster 1 (38.3%) included elderly female patients, with later diagnosis of the disease and more sinus tracts; cluster 2 (61.7%) encompassed more men with earlier disease onset and more nodules and folliculitis lesions. LIMITATIONS: The study's limitations include its retrospective nature, bicentric design, and small sample size. CONCLUSION: The heterogeneous clinical presentation of HS makes it essential to have a good classification of the patients. Gluteal phenotype could actually be classified into two "subphenotypes" with a different clinical profiles and management.

Gluteal Hidradenitis Suppurativa: Analysis of 83 Patients. / [Artículo traducido] Hidradenitis supurativa con afectación glútea: análisis de 83 pacientes.

BACKGROUND: In 2013, Canoui-Poitrine et al. identified three hidradenitis suppurativa (HS) phenotypes by a latent class (LC) analysis, based on anatomical sites of involvement. OBJECTIVE: To improve the classification of the gluteal phenotype (LC3) patients given their diverse lesion types and differences in clinical profile. MATERIAL AND METHODS: We designed a bicentric study gathering all LC3 patients (n=83) from two hospitals. We conducted a two-step cluster analysis among them and also compared their characteristics with the rest of the HS patients (n=661). RESULTS: Compared with global HS series, LC3 patients were more frequently non-obese men, with smoking habit, an associated arthropathy, and a more frequent history of pilonidal sinus. The analysis of LC3 patients yielded two clusters: cluster 1 (38.3%) included elderly female patients, with later diagnosis of the disease and more sinus tracts; cluster 2 (61.7%) encompassed more men with earlier disease onset and more nodules and folliculitis lesions. LIMITATIONS: The study's limitations include its retrospective nature, bicentric design, and small sample size. CONCLUSION: The heterogeneous clinical presentation of HS makes it essential to have a good classification of the patients. Gluteal phenotype could actually be classified into two "subphenotypes" with a different clinical profiles and management.