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The incidence of early-onset colorectal cancer has been rising over the last two decades. Tumors in young patients have distinct features compared to older patients. They predominantly arise in the distal colon and rectum and have poor histological features. Patients tend to present at a more advanced stage and be exposed to more aggressive management approaches; however, this has not translated into a significant survival benefit compared to their older counterparts. This chapter will share current evidence on risk factors and management options for early onset colorectal cancer with a focus on rectal cancer.
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Edad de Inicio , Neoplasias del Recto , Humanos , Neoplasias del Recto/patología , Neoplasias del Recto/terapia , Neoplasias del Recto/cirugía , Neoplasias del Recto/epidemiología , Neoplasias del Recto/mortalidad , Factores de Riesgo , Estadificación de Neoplasias , Incidencia , PronósticoRESUMEN
Rationale & Objective: Atrial fibrillation is the most common arrhythmia and is increasing in prevalence. The prevalence of atrial fibrillation is high among patients receiving dialysis, affecting â¼21.3% of the patients receiving hemodialysis and 15.5% of those receiving peritoneal dialysis. The association of previous dialysis modality with incident atrial fibrillation in patients after receiving their first kidney transplant has not been studied. Study Design: We used the United States Renal Data System to retrospectively identify adult, Medicare-insured patients who received their first kidney transplant between January 1, 2005, and September 30, 2012 and who had not previously been diagnosed with atrial fibrillation. Setting & Participants: The study included 43,621 patients who were aged 18 years older when receiving a first kidney transplant between January 1, 2005, and September 30, 2012 and whose primary payer was Medicare (parts A and B) at the time of transplantation and the 6 months preceding it. Exposure: Dialysis modality used before transplant. Outcome: Time to incidence of atrial fibrillation up to 3 years posttransplant. Analytical Approach: Multivariable Cox regression was used to estimate HRs. Results: Of 43,621 patients, 84.9% received hemodialysis and 15.1% received peritoneal dialysis before transplant. The mean ± SD age was 51 ± 13.6 years; 60.8% were male, 55.6% White, and 35.8% Black race. The mean dialysis vintage was 4.3 ± 2.8 years. Newly diagnosed atrial fibrillation after kidney transplant occurred in 286 patients (during 15,363 person-years) who had received peritoneal dialysis and in 2,315 patients (during 83,536 person-years) who had received hemodialysis. After multivariable adjustment, atrial fibrillation was 20% (95% CI, 4%-38%) more likely in those who had been receiving hemodialysis versus peritoneal dialysis, regardless of whether death was considered a competing risk or a censoring event. Each year of pretransplant dialysis vintage increased the risk of posttransplant atrial fibrillation by 6% (95% CI, 3%-9%). Limitations: Residual confounding; data from billing claims does not specify the duration of atrial fibrillation or whether it is valvular. Conclusions: Pretransplant hemodialysis, as compared with peritoneal dialysis, was associated with higher risk of newly diagnosed atrial fibrillation after a first kidney transplant. Plain-Language Summary: New-onset atrial fibrillation (AF) occurs in 7% of kidney transplant recipients in the first 3 years posttransplantation. We conducted this study to determine whether pretransplant dialysis modality was associated with posttransplant AF. We identified 43,621 patients; 84.9% used hemodialysis and 15.1% used peritoneal dialysis pretransplant. Multivariable Cox regression was used to estimate hazard ratios. We found that patients receiving hemodialysis pretransplant were at 20% increased risk of developing posttransplant AF as compared with patients receiving peritoneal dialysis. As our understanding of transplant-specific risk factors for AF increases, we may be able to better risk-stratify transplant patients and develop monitoring and management strategies that can improve outcomes.
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Background: The use of instruments in clinical practice with measurement properties tested is highly recommended, in order to provide adequate assessment and measurement of outcomes. Objective: To calculate the minimum clinically important difference (MCID) and responsiveness of the Perme Intensive Care Unit Mobility Score (Perme Score). Methods: This retrospective, multicentric study investigated the clinimetric properties of MCID, estimated by constructing the Receiver Operating Characteristic (ROC). Maximizing sensitivity and specificity by Youden's, the ROC curve calibration was performed by the Hosmer and Lemeshow goodness-of-fit test. Additionally, we established the responsiveness, floor and ceiling effects, internal consistency, and predictive validity of the Perme Score. Results: A total of 1.200 adult patients records from four mixed general intensive care units (ICUs) were included. To analyze which difference clinically reflects a relevant evolution we calculated the area under the curve (AUC) of 0.96 (95% CI: 0.95-0.98), and the optimal cut-off value of 7.0 points was established. No substantial floor (8.8%) or ceiling effects (4.9%) were observed at ICU discharge. However, a moderate floor effect was observed at ICU admission (19.3%), in contrast to a very low incidence of ceiling effect (0.6%). The Perme Score at ICU admission was associated with hospital mortality, OR 0.86 (95% CI: 0.82-0.91), and the predictive validity for ICU stay presented a mean ratio of 0.97 (95% CI: 0.96-0.98). Conclusion: Our findings support the establishment of the minimum clinically important difference and responsiveness of the Perme Score as a measure of mobility status in the ICU.
Antecedentes: Se recomienda encarecidamente el uso de instrumentos en la práctica clínica con propiedades de medición probadas, con el fin de proporcionar una evaluación y medición adecuada de los resultados. Objetivo: Calcular la diferencia mínima clínicamente importante (MCID) y la capacidad de respuesta de la puntuación de movilidad de la unidad de cuidados intensivos de Perme (Perme Score). Métodos: Este estudio multicéntrico retrospectivo investigó las propiedades clinimétricas de MCID, estimadas mediante la construcción de la característica operativa del receptor (ROC). Maximizando la sensibilidad y especificidad mediante la prueba de Youden, la calibración de la curva ROC se realizó mediante la prueba de bondad de ajuste de Hosmer y Lemeshow. Además, establecimos la capacidad de respuesta, los efectos suelo y techo, la consistencia interna y la validez predictiva del Perme Score. Resultados: Se incluyeron un total de 1,200 registros de pacientes adultos de cuatro unidades de cuidados intensivos (UCI) generales mixtas. Para analizar qué diferencia refleja clínicamente una evolución relevante calculamos el área bajo la curva (AUC) de 0.96 (95% CI: 0.95-0.98); y se estableció el valor de corte óptimo de 7.0 puntos. No se observaron efectos suelo (8.8%) o techo (4.9%) sustanciales al alta de la UCI. Sin embargo, se observó un efecto suelo moderado al ingreso en la UCI (19.3%), en contraste con una incidencia muy baja del efecto techo (0.6%). El Perme Score al ingreso en UCI se asoció con la mortalidad hospitalaria, OR 0.86 (95% CI: 0.82-0.91), y la validez predictiva de estancia en UCI presentó una relación media de 0.97 (95% CI: 0.96-0.98). Conclusiones: Nuestros hallazgos respaldan el establecimiento de la diferencia mínima clínicamente importante y la capacidad de respuesta de el Perme Score como medida del estado de movilidad en la UCI.
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Unidades de Cuidados Intensivos , Adulto , Humanos , Estudios Retrospectivos , Curva ROCRESUMEN
Understanding anorectal and pelvic floor anatomy can be challenging but is paramount for every physician managing patients with anorectal pathology. Knowledge of anorectal anatomy is essential for managing benign, malignant, traumatic, and infectious diseases affecting the anorectum. This quiz is intended to provide a practical teaching guide for medical students, medical and surgical residents, and may serve as a review for practicing general surgeons and specialists.
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Diafragma Pélvico , Recto , Humanos , Diafragma Pélvico/cirugía , Canal AnalAsunto(s)
Humanos , Masculino , Persona de Mediana Edad , Hematuria , Vacunación Masiva/efectos adversos , Vacunas/efectos adversos , Infecciones por Coronavirus/tratamiento farmacológico , Pandemias , Infecciones por Coronavirus/epidemiología , Coronavirus Relacionado al Síndrome Respiratorio Agudo Severo , Glomerulonefritis por IGARESUMEN
Background: The use of instruments in clinical practice with measurement properties tested is highly recommended, in order to provide adequate assessment and measurement of outcomes. Objective: To calculate the minimum clinically important difference (MCID) and responsiveness of the Perme Intensive Care Unit Mobility Score (Perme Score). Methods: This retrospective, multicentric study investigated the clinimetric properties of MCID, estimated by constructing the Receiver Operating Characteristic (ROC). Maximizing sensitivity and specificity by Youden's, the ROC curve calibration was performed by the Hosmer and Lemeshow goodness-of-fit test. Additionally, we established the responsiveness, floor and ceiling effects, internal consistency, and predictive validity of the Perme Score. Results: A total of 1.200 adult patients records from four mixed general intensive care units (ICUs) were included. To analyze which difference clinically reflects a relevant evolution we calculated the area under the curve (AUC) of 0.96 (95% CI: 0.95-0.98), and the optimal cut-off value of 7.0 points was established. No substantial floor (8.8%) or ceiling effects (4.9%) were observed at ICU discharge. However, a moderate floor effect was observed at ICU admission (19.3%), in contrast to a very low incidence of ceiling effect (0.6%). The Perme Score at ICU admission was associated with hospital mortality, OR 0.86 (95% CI: 0.82-0.91), and the predictive validity for ICU stay presented a mean ratio of 0.97 (95% CI: 0.96-0.98). Conclusion: Our findings support the establishment of the minimum clinically important difference and responsiveness of the Perme Score as a measure of mobility status in the ICU.
Antecedentes: Se recomienda encarecidamente el uso de instrumentos en la práctica clínica con propiedades de medición probadas, con el fin de proporcionar una evaluación y medición adecuada de los resultados. Objetivo: Calcular la diferencia mínima clínicamente importante (MCID) y la capacidad de respuesta de la puntuación de movilidad de la unidad de cuidados intensivos de Perme (Perme Score). Métodos: Este estudio multicéntrico retrospectivo investigó las propiedades clinimétricas de MCID, estimadas mediante la construcción de la característica operativa del receptor (ROC). Maximizando la sensibilidad y especificidad mediante la prueba de Youden, la calibración de la curva ROC se realizó mediante la prueba de bondad de ajuste de Hosmer y Lemeshow. Además, establecimos la capacidad de respuesta, los efectos suelo y techo, la consistencia interna y la validez predictiva del Perme Score. Resultados: Se incluyeron un total de 1,200 registros de pacientes adultos de cuatro unidades de cuidados intensivos (UCI) generales mixtas. Para analizar qué diferencia refleja clínicamente una evolución relevante calculamos el área bajo la curva (AUC) de 0.96 (95% CI: 0.95-0.98); y se estableció el valor de corte óptimo de 7.0 puntos. No se observaron efectos suelo (8.8%) o techo (4.9%) sustanciales al alta de la UCI. Sin embargo, se observó un efecto suelo moderado al ingreso en la UCI (19.3%), en contraste con una incidencia muy baja del efecto techo (0.6%). El Perme Score al ingreso en UCI se asoció con la mortalidad hospitalaria, OR 0.86 (95% CI: 0.82-0.91), y la validez predictiva de estancia en UCI presentó una relación media de 0.97 (95% CI: 0.96-0.98). Conclusiones: Nuestros hallazgos respaldan el establecimiento de la diferencia mínima clínicamente importante y la capacidad de respuesta de el Perme Score como medida del estado de movilidad en la UCI.
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PURPOSE OF REVIEW: Mechanical circulatory support (MCS) is a group of evolving therapies used for indications ranging from temporary support during a cardiac procedure to permanent treatment of advanced heart failure. MCS is primarily used to support left ventricle function, in which case the devices are termed left ventricular assist devices (LVADs). Kidney dysfunction is common in patients requiring these devices, yet the impact of MCS itself on kidney health in many settings remains uncertain. RECENT FINDINGS: Kidney dysfunction can manifest in many different forms in patients requiring MCS. It can be because of preexisting systemic disorders, acute illness, procedural complications, device complications, and long-term LVAD support. After durable LVAD implantation, most persons have improvement in kidney function; however, individuals can have markedly different kidney outcomes, and novel phenotypes of kidney outcomes have been identified. SUMMARY: MCS is a rapidly evolving field. Kidney health and function before, during, and after MCS is relevant to outcomes from an epidemiologic perspective, yet the pathophysiology underlying this is uncertain. Improved understanding of the relationship between MCS use and kidney health is important to improving patient outcomes.
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Insuficiencia Cardíaca , Corazón Auxiliar , Humanos , Corazón Auxiliar/efectos adversos , Insuficiencia Cardíaca/etiología , Riñón , Resultado del TratamientoRESUMEN
CONTEXT: Loss-of-function mutations in the maternally imprinted genes, MKRN3 and DLK1, are associated with central precocious puberty (CPP). Mutations in MKRN3 are the most common known genetic etiology of CPP. OBJECTIVE: This work aimed to screen patients with CPP for MKRN3 and DLK1 mutations and analyze the effects of identified mutations on protein function in vitro. METHODS: Participants included 84 unrelated children with CPP (79 girls, 5 boys) and, when available, their first-degree relatives. Five academic medical institutions participated. Sanger sequencing of MKRN3 and DLK1 5' upstream flanking and coding regions was performed on DNA extracted from peripheral blood leukocytes. Western blot analysis was performed to assess protein ubiquitination profiles. RESULTS: Eight heterozygous MKRN3 mutations were identified in 9 unrelated girls with CPP. Five are novel missense mutations, 2 were previously identified in patients with CPP, and 1 is a frameshift variant not previously associated with CPP. No pathogenic variants were identified in DLK1. Girls with MKRN3 mutations had an earlier age of initial pubertal signs and higher basal serum luteinizing hormone and follicle-stimulating hormone compared to girls with CPP without MRKN3 mutations. Western blot analysis revealed that compared to wild-type MKRN3, mutations within the RING finger domain reduced ubiquitination whereas the mutations outside this domain increased ubiquitination. CONCLUSION: MKRN3 mutations were present in 10.7% of our CPP cohort, consistent with previous studies. The novel identified mutations in different domains of MKRN3 revealed different patterns of ubiquitination, suggesting distinct molecular mechanisms by which the loss of MRKN3 results in early pubertal onset.
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Mutación Missense , Pubertad Precoz , Niño , Masculino , Femenino , Humanos , Pubertad Precoz/genética , Ubiquitina-Proteína Ligasas/genética , Mutación , Ubiquitinación , PubertadRESUMEN
Introduction: Leprosy is an infectious disease that remains with a high number of new cases in developing countries. Household contacts have a higher risk for the development of the disease, but the neural impairment in this group is not well elucidated yet. Here, we measured the chance of occurrence of peripheral neural impairment in asymptomatic leprosy household. Methods: Contacts who present anti-PGL-I IgM seropositivity, through electroneuromyography (ENMG) evaluation. We recruited 361 seropositive contacts (SPC) from 2017 to 2021, who were subjected to an extensive protocol that included clinical, molecular, and electroneuromyographic evaluations. Results: Our data revealed a positivity of slit skin smear and skin biopsy qPCR of 35.5% (128/361) and 25.8% (93/361) respectively. The electroneuromyographic evaluation of the SPC showed neural impairment in 23.5% (85/361), with the predominance of a mononeuropathy pattern in 62.3% (53/85). Clinical neural thickening was observed in 17.5% (63/361) of seropositive contacts, but among the individuals with abnormal ENMG, only 25.9% (22/85) presented neural thickening in the clinical exam. Discussion: Ours results corroborates the need to make the approach to asymptomatic contacts in endemic countries more timely. Since leprosy in its early stages can present an indolent and subclinical evolution, serological, molecular, and neurophysiological tools are essential to break the disease transmission chain.
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Introduction: Leprosy is one of the most common infectious cause of peripheral neuropathy in the world and can lead to sequelae and physical disabilities. Electroneuromyography (ENMG) is the gold-standard test for evaluating neural impairment, detecting from subclinical abnormalities to advanced lesions. This study aims to describe the electroneuromyographic findings in patients with leprosy, according to their clinical forms. Methods: The study is a retrospective observational analysis of the medical records of patients with leprosy, of a National Reference Center of Sanitary Dermatology and Leprosy in Brazil between 2014 and 2022. 513 patients underwent ENMG at leprosy diagnosis and also underwent a clinical, serological and molecular evaluation of the disease. Results: The electroneuromyographic findings showed 2,671 altered nerves, with an average of 6.9 (±5.1) altered nerves per patient. The most affected sensory nerves were the superficial peroneal (25.0%; 413/1649), sural (15.1%; 397/2627) and ulnar (13.8%; 363/2627), with average of 4.3 (±3.2) affected sensory nerves per patient. The most affected motor nerves were the ulnar (33.1%; 338/1022) and common peroneal (12.1%; 319/2627), with average of 2.6 (±2.5) motor nerves affected per patient. 126 patients presented normal ENMG and, among the 387 with abnormalities in the exam, 13.2% (51/387) had mononeuropathy and 86.8% (336/387) had multiple mononeuropathy. Axonal involvement was more frequent in primary neural leprosy, borderline-tuberculoid, borderline-lepromatous and lepromatous forms. Discussion: Our findings support that leprosy is a spectral disease, characterized by a balance between host immunity and bacillary load. Therefore, the impairment and electroneuromyographic characteristics are distinct and may vary according to the clinical form.
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ABSTRACT: Introduction: Most athletes treated for lumbar disc herniation return to play between 3 and 9 months after conservative or surgical treatment. In the last two decades, the general population increased the practice and participation in amateur competitions, being more prone to overload injuries. Objectives: To evaluate sports practice after lumbar discectomy in non-professional athletes. Methods: In the last five years, a digital questionnaire was sent to patients submitted to up to two levels of open discectomy. After signing the informed consent form, the patients were instructed to answer the questionnaire with personal and clinical data related to disc treatment and sports practice after the procedure. Results: Of 182 contacted patients, a hundred answered the questionnaire; 65% practiced regular sports activities before surgery. From patients who practiced sports before surgery, 75.38% returned to sports activities after the procedure. 39.29% returned between 3 and 6 months. Only 12.31% referred to impaired sports performance, while 56.92% performed unaffected, and 21.54% reported improved performance after surgery. Prior sports practice, participation in amateur competitions, and regular core strengthening were significantly associated with sports practice after surgery (P<0,05). Conclusions: From the participants who had already practiced sports before surgery, 75.38% returned after the surgical procedure. Sports practice before surgery, participation in amateur competitions, and regular core strengthening were positively associated with a return to sports practice after lumbar discectomy. The study shows that core strengthening should be encouraged and recommended to all non-professional athletes who intend to return to sports after microdiscectomy surgeries. Level of Evidence: III; Cross-Sectional Retrospective Study.
RESUMO: Introdução: A maioria dos atletas tratados de hérnia de disco lombar volta a jogar em um período entre 3 e 9 meses, após tratamento conservador ou cirúrgico. Nas últimas duas décadas, a população em geral aumentou a prática e participação em competições amadoras; sendo mais propenso a lesões por uso excessivo. Objetivos: Avaliar a prática esportiva após discectomia lombar em atletas não profissionais. Métodos: Um questionário digital foi enviado aos pacientes submetidos à discectomia aberta de até 2 níveis, nos últimos cinco anos. Após a assinatura do termo de consentimento livre e esclarecido, os pacientes foram orientados a responder o questionário com dados pessoais e clínicos relacionados ao tratamento e à prática esportiva após o procedimento. Resultados: Dos 182 pacientes contatados, cem responderam ao questionário; destes, 65% praticavam atividades esportivas regulares antes da cirurgia. Dos pacientes que praticavam esportes antes da cirurgia, 75,38% retornaram à atividade esportiva após o procedimento. 39,29% retornaram entre 3 e 6 meses. Apenas 12,31% relataram piora no desempenho esportivo, enquanto para 56,92% o desempenho não foi afetado e 21,54% relataram melhora no desempenho após a cirurgia. A prática esportiva prévia, a participação em competições amadoras e o fortalecimento regular do core foram significativamente associados à prática esportiva após a cirurgia (P<0,05). Conclusões: Dos participantes que já praticavam esportes antes da cirurgia, 75,38% retornaram após o procedimento cirúrgico. A prática esportiva prévia à cirurgia, a participação em competições amadoras e o fortalecimento regular do core foram positivamente associados ao retorno à prática esportiva após a discectomia lombar. O estudo mostra que o fortalecimento do core deve ser incentivado e recomendado para todos os atletas não profissionais que pretendem retornar ao esporte após cirurgias de microdiscectomia. Nível de Evidência III; Estudio Transversal Retrospectivo.
RESUMEN: Introducción: La mayoría de los atletas tratados por hernia de disco lumbar regresan a jugar en un período de entre 3 y 9 meses, luego de un tratamiento conservador o quirúrgico. En las últimas dos décadas, la población en general incrementó la práctica y participación en competencias aficionadas; siendo más propensos a sufrir lesiones por sobrecarga.Objetivos: Evaluar la práctica deportiva posterior a discectomía lumbar en deportistas no profesionales. Métodos: Se envió un cuestionario digital a los pacientes sometidos a discectomía abierta de hasta 2 niveles, en los últimos cinco años. Tras firmar el consentimiento informado, se instruyó a los pacientes para que respondieran el cuestionario con datos personales y clínicos, relacionados con el tratamiento discal y la práctica deportiva posterior al procedimiento. Resultados: De 182 pacientes contactados, cien respondieron el cuestionario; de estos, el 65% practicaba actividades deportivas regulares antes de la cirugía. De los pacientes que practicaban deporte antes de la cirugía, el 75,38% retornó a la actividad deportiva después del procedimiento. El 39,29% volvió entre los 3 y 6 meses. Solo el 12,31 % refirió deterioro del rendimiento deportivo, mientras que para el 56,92 % el rendimiento no se vio afectado y el 21,54 % refirió mejora del rendimiento después de la cirugía. La práctica deportiva previa, la participación en competiciones aficionadas y la realización regular de fortalecimiento del core, se asociaron significativamente con la práctica deportiva tras la cirugía (P<0,05). Conclusiones: De los participantes que ya practicaban deporte antes de la cirugía, el 75,38% regresaron después del procedimiento quirúrgico. La práctica deportiva previa a la cirugía, la participación en competiciones de aficionados y la realización de un fortalecimiento core periódico se asociaron positivamente con la vuelta a la práctica deportiva tras la discectomía lumbar. El estudio muestra que se debe alentar y recomendar el fortalecimiento del core a todos los atletas no profesionales que tengan la intención de volver al deporte después de las cirugías de microdiscectomía. Nivel de Evidencia III; Estudio Retrospectivo Transversal.