Duración de la diarrea aguda infecciosa con el uso de leche deslactosada vs leche con lactosa en la población pediátrica: Revisión sistemática / Duration of acute infectious diarrhea with the use of lactose-free milk vs. lactose-containing milk in the pediatric population: A systematic review

Introducción: La diarrea aguda es una entidad frecuente en pediatría, constituyendo una de las principales causas de mortalidad en países en desarrollo y en niños menores de cinco años. Si bien la alimentación representa uno de los pilares fundamentales en el tratamiento de la misma, no existe consenso entre los profesionales en cuanto a la indicación de leche deslactosada durante el curso del cuadro. Objetivos: Realizar una revisión sistemática para estudiar el impacto del consumo de leche deslactosada vs leche regular en la duración de la diarrea aguda infecciosa en niños. Materiales y métodos: Se realizó una revisión sistemática incluyendo artículos publicados desde el año 2008 al 2023, utilizando para la búsqueda las bases de datos PubMed, Lillacs, Cochrane Library y literatura gris. Se incluyeron estudios experimentales, observacionales, revisiones, guías de atención y metaanálisis, realizados en pacientes pediátricos sin patologías de base, cursando cuadro de diarrea aguda infecciosa, que compararan el uso de leche deslactosada frente a leche regular. Resultados: Se seleccionaron doce artículos. En 9 de ellos se constató una disminución en la duración de la diarrea en los pacientes que recibieron leche deslactosada con una diferencia de medias de 18 horas (en un rango entre 4 y 32.6 horas). No se reportaron diferencias estadísticamente significativas en la mortalidad entre el uso de una u otra fórmula láctea. En relación al uso de una u otra fórmula no se objetivaron variaciones en el peso estadísticamente significativas. La necesidad de hospitalización fue similar entre ambos grupos. Solo un artículo analizó la frecuencia o volumen de deposiciones sin encontrar diferencias significativas (AU)

Introduction:Acute diarrhea is frequent in pediatrics, and constitutes one of the main causes of mortality in developing countries and in children under five years of age. Although feeding is one of the fundamental pillars in the treatment of diarrhea, there is no consensus among professionals regarding the indication of lactose-free milk during the course of the symptoms. Objectives: To conduct a systematic review to study the impact of lactose-free milk vs. regular milk consumption on the duration of acute infectious diarrhea in children. Materials and methods: A systematic review was conducted including articles published between 2008 and 2023, using PubMed, Lillacs, Cochrane Library databases, and gray literature for the search. Experimental and observational studies, reviews, care guidelines and meta-analysis were included, conducted in pediatric patients without underlying diseases, with acute infectious diarrhea, comparing the use of lactose-free milk versus regular milk. Results: Twelve articles were selected. Nine of them showed a decrease in the duration of diarrhea in patients who received lactose-free milk with a mean difference of 18 hours (ranging from 4 to 32.6 hours). No statistically significant differences in mortality were reported between the use of one or the other milk formula. Regarding the use of one or the other formula, there were no statistically significant variations in weight. The need for hospital admission was similar between the two groups. Only one article analyzed stool frequency or volume with no significant differences (AU)

Acute sarcoidosis Löfgren Syndrome treated by Chinese medicinal formula based on Syndrome Differentiation: a case - based review / Tratamiento de síndrome de Löfgren de sarcoidosis con fórmula medicinal china basada en diferenciación de síndrome: una revisión basada en casos

Löfgren syndrome (LS) is a unique acute manifestation of sarcoidosis and characterized by erythema nodosum, bilateral hilar lymphadenectasis, and/or bilateral ankle arthritis or periarthritis. A 37 - year - old female patient with LS presented with fever accompanied by multiple joint swelling and pain, nodular skin erythema, and bilateral hilar lymphadenectasis. The patient had received treatment involving non - steroidal anti - inflammatory drugs and glucocorticoids in other hospitals, but the effects were poor, and the conditions reemerged. The LS duration has lasted for more than 3 months. Following traditional Chinese medicine (TCM) treatment, syndrome differentiation as well as giving patients oral Chinese medicine decoction, the symptoms of the patient were rapidly relieved within one week and did not recur during a six - month follow - up period. This case is the first clinical report of acute sarcoidosis LS treated using T CM and reflects the significant advantages of this form of therapy in emergency treatment

El síndrome de Löfgren (LS) es una manifest ación única y aguda de sarcoidosis, caracterizada por eritrema nodoso, linfadenectasis hilar bilateral, y/o a r tritis de tobillo bilateral o periartritis. Una paciente de 37 años de sexo femenino con LS se presentó con fiebre, acompañada de inflamación y do lor múltiple de articulaciones, eritrema nodular cutáneo, y linfadenectasis hilar bilateral. La paciente recibió un tratamiento que consistió en antiinflamatorios no esteroidales y glucocorticoides en otros hospitales, pero los efectos fueron leves y las c ondiciones reemergieron. El LS ha durado más de tres meses. Siguiendo el tratamiento de medicina tradicional china (MTC), la diferenciación de síndrome, así como darles a los pacientes una decocción de medicina china por vía oral, los síntomas de la pacien te rápidamente fueron aliviados en el curso de una semana y no recidivaron durante los seis meses de un seguimiento. El caso es el primer reporte clínico de tratamiento de sarcoidosis aguda asociada a LS usando TCM y refleja las significativas ventajas de esta forma de terapia en el tratamiento de emergencia.

Ataxia cerebelosa aguda y COVID-19: presentación de un caso clínico / Ataxia cerebelosa aguda y COVID-19: presentación de un caso clínico

COVID-19 es una enfermedad viral principalmente respiratoria y/o gastrointestinal. Las manifestaciones neurológicas tienen una frecuencia variable en pediatría. Presentamos un varón de 10 años de edad, previamente sano, que presentó una ataxia cerebelosa durante un cuadro agudo de COVID-19. El SARS-CoV-2 fue detectado por hisopado nasofaríngeo por antígeno y RPC. El LCR fue normal y el cultivo bacteriológico y estudio viral fueron negativos. La TC y RM encefálica fueron normales. No requirió tratamiento específico y tuvo una evolución favorable, con resolución completa de los síntomas neurológicos al mes. Debe considerarse la infección por SARS-CoV-2 como un diagnóstico diferencial entre las causas de ataxia cerebelosa aguda, según la situación epidemiológica.

COVID-19 is a disease that mainly produces respiratory and/or gastrointestinal symptoms. Neurological manifestations occur with a variable frequency in children. We present a previously healthy 10-year-old boy who presented acute cerebellar ataxia during an acute COVID-19. SARS-CoV-2 was detected in a nasopharyngeal sample by antigen and PCR. The CSF was normal, the bacteriological culture and the viral PCR were negative. CT of the brain and gadolinium MRI of the brain were normal. He did not require specific treatment and had a favorable evolution, with complete resolution of neurological symptoms at one month. SARS-CoV-2 infection should be considered as a differential diagnosis between the causes of acute cerebellar ataxia, according to the epidemiological situation.

Microorganismos aislados de hemocultivos en niños con leucemia y linforma: Seis años de seguimiento / Microorganisms isolated from blood cultures in children with leukemia and lymphoma: six years of follow-up

Las Leucemias y linfomas constituyen las enfermedades oncológicas más frecuentes en pediatría y las bacteriemias representan infecciones graves en estos pacientes. Objetivos: describir los microorganismos aislados de sangre en pacientes con leucemia aguda o linfoma pediátrico; comparar la incidencia de aislamientos según enfermedad de base; detallar las variaciones en la incidencia de dichos aislamientos y la evolución de su resistencia antimicrobiana. Estudio retrospectivo, observacional. Se incluyeron 823 episodios de bacteriemia en 467 pacientes pediátricos, entre julio-2016 y junio-2022, dividido en tres períodos (período-1: años 2016- 2018, período-2: años 2018-2020, período-3: años 2020-2022). Se aislaron 880 microorganismos: 55,3% gram negativos (GN), 40% gram positivos (GP) y 4,7% levaduras. En GN predominaron: enterobacterias (72%) y en GP: estreptococos del grupo viridans (SGV) (34,1%). Se encontró asociación entre LLA-enterobacterias (p=0,009) y LMA-SGV (p<0,001). Hubo aumento de GN entre los períodos 1 y 3 (p=0,02) y 2 y 3 (p=0,002) y disminución de GP entre 2 y 3 (p=0,01). Se registraron los siguientes mecanismos de resistencia: BLEE (16,4%), carbapenemasas: KPC (2,5%); MBL (2,7%) y OXA (0,2%); meticilinorresistencia en Staphylococcus aureus (20%) y estafilococos coagulasa negativos (95%), vancomicina resistencia en Enterococcus spp. (39%), SGV no sensibles a penicilina (44%) y a cefotaxima (13%). Hubo aumento de MBL entre los períodos 1 y 2 (p=0,02) y una tendencia en disminución de sensibilidad a penicilina en SGV entre el 1 y 3 (p=0,058). El conocimiento dinámico y análisis de estos datos es esencial para generar estadísticas a nivel local, fundamentales para el diseño de guías de tratamientos empíricos (AU)

Leukemias and lymphomas are the most common cancers in children and bacteremia is a severe infection in these patients. Objectives: to describe the microorganisms isolated from blood in pediatric patients with acute leukemia or lymphoma; to compare the incidence of isolates according to the underlying disease; and to detail the variations in the incidence of these isolates and the evolution of their antimicrobial resistance. Retrospective, observational study. We included 823 episodes of bacteremia in 467 pediatric patients seen between July-2016 and June-2022, divided into three periods (period-1: 2016- 2018, period-2: 2018-2020, period-3: 2020-2022). A total of 880 microorganisms were isolated: 55.3% were gram-negative (GN), 40% gram-positive (GP) and 4.7% yeasts. In GN there was a predominance of: enterobacteria (72%) and in GP viridans group streptococci (VGS) (34.1%). An association was found between ALL-enterobacteria (p=0.009) and AML-VGS (p<0.001). There was an increase in GN between periods 1 and 3 (p=0.02) and 2 and 3 (p=0.002) and a decrease in GP between 2 and 3 (p=0.01). The following resistance mechanisms were recorded: BLEE (16.4%), carbapenemases: KPC (2.5%), MBL (2.7%), and OXA (0.2%); methicillin resistance in Staphylococcus aureus (20%) and coagulase negative staphylococci (95%), vancomycin resistance in Enterococcus spp. (39%), VGS resistant to penicillin (44%) and to cefotaxime (13%). There was an increase in MBL between periods 1 and 2 (p=0.02) and a decreasing trend in penicillin sensitivity in VGS between periods 1 and 3 (p=0.058). Dynamic knowledge and analysis of these data is essential to generate statistics at the local level, which is fundamental for the design of empirical treatment guidelines (AU)

Cumplimiento de los objetivos nutricionales durante el uso de dispositivos de asistencia ventricular / Nutritional objectives in patients with ventricular assist devices

Antecedentes: Los dispositivos de asistencia ventricular (VAD, sigla en inglés) se utilizan cada vez más para el manejo de la insuficiencia cardíaca descompensada en unidades de cuidados intensivos. El manejo nutricional es fundamental para la evolución clínica de estos pacientes. Objetivos: El objetivo fue evaluar en cuánto tiempo se puede alcanzar las necesidades nutricionales, utilizando distintas modalidades de apoyo nutricional, en pacientes que requirieron asistencia con VAD por insuficiencia cardíaca aguda en una clínica privada del país. Métodos: En una clínica privada se efectuó un estudio observacional retrospectivo analizando los datos clínicos relacionados al aporte nutricional de 12 pacientes que requirieron asistencia con VAD. Las vías de aporte nutricional evaluadas fueron la nutrición enteral (NE) y/o nutrición parenteral (NP). Se midió el tiempo de implementación del apoyo nutricional y su efecto se estimó por una valoración nutricional subjetiva y por la medición de indicadores de laboratorio. Además, se vigilaron las complicaciones asociadas al aporte nutricional. Resultados: El estudio incluyó a 12 pacientes. Los objetivos nutricionales se alcanzaron por completo en el 91% de los pacientes (n=11) en 3,7 ± 1 días después de iniciado el apoyo nutricional. En ese momento, 5 pacientes recibían NE exclusiva, 4 pacientes NP complementaria a la NE, 1 paciente NE complementaria a la alimentación oral y 1 paciente con vía oral. Al momento de alcanzar los requerimientos nutricionales ningún paciente tenía NP exclusiva. Conclusión: Concluimos que el apoyo nutricional precoz es factible y seguro en pacientes con VAD. Alcanzar los objetivos nutricionales es posible sin efectos adversos graves. Se necesitan estudios futuros para determinar el beneficio a largo plazo del apoyo nutricional agresivo para pacientes en estado crítico que requieren apoyo hemodinámico.

Background: Ventricular assist devices (VAD) are being used more frequently in patients with severe heart failure. Nutritional support is a critical factor for the outcome in these patients. Aim: to evaluate the time required and mode of nutritional support in patients with severe cardiac dysfunction being treated with VAD. Methods: 12 patients with VAD being treated in an intensive care unit were evaluated to determine the time and mode of support required to achieve adequate nutrition. Enteral and / or parenteral modes of nutritional support were used. The outcomes were evaluated by subjective appreciation, weight measurement and serum levels of albumin, pre-albumin and vitamin D. Results: Adequate nutritional support was achieved in 91% of patients a mean of 3 days after beginning of treatment (SD 1 day). At that time 5 patients were receiving only enteral nutrition, 4 patients enteral and parenteral nutrition, 1 patient enteral nutrition in addition to oral nutrition and 1 patients was receiving only oral nutrition. No patient was receiving only parenteral nutrition. Conclusion: early nutritional support is posible and safe in patients with an VAD. Further studies are needed to evaluate long term benefits of this strategy of nutritional support.

Quercetin and resveratrol are associated with the downregulation of TNFalpha/NF-kB/inos axis-mediated acute liver injury in rats induced by paracetamol poisoning / La quercetina y el resveratrol están asociados con la regulación decreciente de la lesión hepática aguda mediada por el eje TNF-alfa/NF-kB/inos en ratas inducida por envenenamiento con paracetamol

SUMMARY: Paracetamol (known as acetaminophen, or APAP) poisoning causes acute liver damage that can lead to organ failure and death. We sought to determine that APAP overdose can augment tumor necrosis factor-alpha (TNF-α)/ nuclear factor kappa B (NF-kB)/induced nitic oxide synthase (iNOS) axis-mediated hepatotoxicity in rats, and the anti-inflammatory polyphenolic compounds, quercetin (QUR) plus resveratrol (RES) can ameliorate these parameters. Therefore, we induced acute hepatotoxicity in rats using APAP overdose (2 g/kg, orally) and the protective group of rats were treated with 50 mg/kg QUR plus 30 mg/kg RES for one week before APAP ingestion. Animals were killed at day 8. APAP poisoning caused the induction of hepatic tissue levels of TNF-α, NF-kB, and iNOS, which were significantly (p<0.05) decreased by QUR+RES. QUR+RES, also inhibited liver injury biomarkers, alanine aminotransferase (ALT) and aspartate aminotransferase (AST). Additionally, a link between liver injury and TNF-α /NF-kB / iNOS axis mediated hepatotoxicity was observed. Thus, the presented data backing the conclusion that intoxication by paracetamol increases TNF-α / NF-kB / iNOS axis -mediated hepatotoxicity, and is protected by a combination of quercetin and resveratrol.

El envenenamiento por paracetamol (conocido como acetaminofeno o APAP) causa daño hepático agudo que puede provocar una insuficiencia orgánica y la muerte. El objetivo de este trabajo fue determinar si la sobredosis de APAP puede aumentar la hepatotoxicidad mediada por el eje del factor de necrosis tumoral alfa (TNF-α)/factor nuclear kappa B (NF-kB)/óxido nítico sintasa inducida (iNOS) en ratas, y si el polifenólico antiinflamatorio compuesto por quercetina (QUR) más resveratrol (RES) pueden mejorar estos parámetros. Por lo tanto, inducimos hepatotoxicidad aguda en ratas usando una sobredosis de APAP (2 g/kg, por vía oral). El grupo protector de ratas se trató con 50 mg/ kg de QUR más 30 mg/kg de RES durante una semana antes de la ingestión de APAP. Los animales se sacrificaron el día 8. El envenenamiento con APAP en el tejido hepático provocó la inducción de niveles de TNF-α, NF-kB e iNOS, que se redujeron significativamente (p<0,05) con QUR+RES. QUR+RES, también inhibió los biomarcadores de daño hepático, la alanina aminotransferasa (ALT) y el aspartato aminotransferasa (AST). Además, se observó una relación entre la lesión hepática y la hepatotoxicidad mediada por el eje TNF-α /NF-kB/iNOS. Por lo tanto, los datos presentados respaldan la conclusión de que la intoxicación por paracetamol aumenta la hepatotoxicidad mediada por el eje TNF-α /NF-kB / iNOS, y está protegida por una combinación de quercetina y resveratrol.

Association of nutritional status and diet with the gut microbiome in acutely ill hospitalised older adults / Associação do estado nutricional e da dieta com o microbioma intestinal em idosos hospitalizados agudamente enfermos

Introduction - Ageing is characterised by changes associated with an increased risk of developing chronic diseases and syndromes, of which malnutrition is one of the most common in older adults. The gut microbiota has an important role in the hosts health and is determined by several factors, including nutritional status and diet. Therefore, the gut microbiota may be associated with malnutrition and dietary intake in acutely ill older adults. Objectives - to identify- 1) the prevalence of malnutrition; 2) the association of malnutrition with the composition and metabolic potential of the gut microbiota and its impact on clinical outcomes; 3) the effect of habitual diet on the gut microbiota of acutely ill hospitalised older adults according to the nutritional status. Methods - a longitudinal analysis secondary to a prospective cohort was performed on 108 participants aged 65+ years old admitted to the hospital due to acute conditions. Clinical, demographic, nutritional, and anthropometric data and rectal swab samples were collected at admission and after 72 hours of hospitalisation. The food intake was estimated using the dietary history and the nutritional status diagnosed using the Global Leadership Initiative on Malnutrition (GLIM) criteria, preceded by the Mini-Nutritional Assessment Short-form (MNA-SF). Rectal swab samples were obtained to analyse the gut microbiota via 16S rRNA gene sequencing. The microbiota diversity, overall composition and differential abundances were calculated and compared between well-nourished and malnourished groups. Microbiome features potentially associated with malnutrition were selected by penalised models and confirmed by additive models. The prediction of clinical outcomes was investigated from the "malnourished microbiota" using decision trees. The dietary intake was explored through multivariate methods and investigated with the microbiota using tests of association and mediation analysis. Results - Malnourished patients (51%) had a different overall microbiota composition compared to well-nourished during hospitalisation (R= 0.079, p= 0.003). Severely malnourished (32.4%) showed a poorer diversity at admission (Shannon p= 0.012, Simpson p= 0.018) and after 72 hours (Shannon p= 0.023, Chao1 p= 0.008). Subdoligranulum, Lachnospiraceae NK4A136 group and Faecalibacterium prausnitzii, short-chain fatty acids producers, had significantly lower abundance and negative association with malnutrition, while Fusobacterium, Corynebacterium and Ruminococcaceae Incertae Sedis were highly increased and positively associated with malnutrition. Corynebacterium, Ruminococcaceae Incertae Sedis and the overall composition were important predictors of critical care in malnourished during hospitalisation. Malnourished patients had a significantly lower intake of plant protein, carbohydrates, dietary fibre, Fe, Mn, folate, campesterol, beta-sitosterol, and -linolenic acid, and higher intake of Vitamin D. There were no significant correlations of nutrients, foods or food groups with the microbiota structure, but for individual taxa and -diversity metrics. Mediation analysis revealed a significant indirect effect of the nutritional status on the differential abundance of several bacterial taxa partially mediated in a positive direction by dietary fibre, plant-based protein, onions, and olive oil, and negative by vitamin D. Conclusion - Malnourished patients had a significantly lower intake of key dietary compounds and substantial gut microbial disturbances during hospitalisation, pronounced in the severe stage. Some plant-based compounds might confer beneficial effects on the gut microbiota profile. A "malnourished microbiota" may be able to predict critical illness in hospitalised malnourished older patients. Bench-to-bedside investigations are necessary to confirm these findings.

Introdução - O envelhecimento é caracterizado por mudanças associadas a uma maior chance de desenvolver síndromes e doenças crônicas, das quais a desnutrição é uma das mais comuns em idosos. A microbiota intestinal tem um papel importante na saúde e é determinada por vários fatores, incluindo o estado nutricional e a dieta. Portanto, a microbiota intestinal pode estar associada à desnutrição e à ingestão alimentar em idosos gravemente doentes. Objetivos - identificar- 1) a prevalência de desnutrição; 2) a associação da desnutrição com a composição e o potencial metabólico da microbiota intestinal e seu impacto nos desfechos clínicos; 3) o efeito da dieta habitual sobre a microbiota intestinal de idosos hospitalizados com doenças agudas de acordo com o estado nutricional. Métodos - uma análise longitudinal secundária a uma coorte prospectiva foi realizada em 108 participantes com mais de 65 anos de idade admitidos no hospital devido a condições agudas. Foram coletados dados clínicos, demográficos, nutricionais, antropométricos e swab retal na admissão e após 72 horas de internação. O consumo alimentar foi estimado por meio do histórico alimentar e o estado nutricional foi diagnosticado pelos critérios da Iniciativa de Liderança Global sobre Desnutrição (GLIM), precedido da triagem pela Mini-Avaliação Nutricional versão curta (MAN-SF). Amostras de swab retal foram obtidas para analisar a microbiota intestinal via sequenciamento do gene 16S rRNA. A diversidade da microbiota, composição geral e a abundâncias diferenciais foram calculadas e comparadas entre os grupos bem nutrido e desnutrido. Variáveis do microbioma potencialmente associadas à desnutrição foram selecionadas por modelos penalizados e confirmadas por modelos aditivos. A predição para os desfechos clínicos foi investigada a partir da "microbiota desnutrida" utilizando árvores de decisão. O consumo alimentar foi explorado por meio de métodos multivariados e investigado com a microbiota por meio de testes de associação e análise de mediação. Resultados - Os pacientes desnutridos (51%) apresentaram composição geral da microbiota diferente comparado com os bem nutridos durante a hospitalização (R= 0,079, p= 0,003). Os sevemente desnutridos (32,4%) apresentaram menor diversidade na admissão (Shannon p= 0,012, Simpson p= 0,018) e após 72 horas (Shannon p = 0,023, Chao1 p= 0,008). Subdoligranulum, Lachnospiraceae NK4A136 e Faecalibacterium prausnitzii, produtores de ácidos graxos de cadeia curta, tiveram abundância significativamente menor e associação negativa com a desnutrição, enquanto Fusobacterium, Corynebacterium e Ruminococcaceae Incertae Sedis tiveram maior abundância e associação positiva. Corynebacterium, Ruminococcaceae Incertae Sedis e a composição geral foram importantes preditores de cuidados intensivos em desnutridos durante a hospitalização. Pacientes desnutridos tiveram ingestão significativamente menor de proteína vegetal, carboidratos, fibra dietética, Fe, Mn, folato, campesterol, beta-sitosterol e ácido -linolênico, e maior de vitamina D. Não houve correlações significativas entre nutrientes, alimentos ou grupos de alimentos com a estrutura da microbiota, mas sim para táxons individuais e métricas da -diversidade. A análise de medição revelou um efeito indireto significativo do estado nutricional sobre a abundância diferencial de vários táxons bacterianos parcialmente mediada em uma direção positiva pela fibra alimentar, proteína vegetal, cebola, e azeite de oliva, e negativa pela vitamina D. Conclusão - Pacientes desnutridos tiveram menor ingestão de compostos dietéticos chaves e distúrbios microbianos intestinais substanciais durante a hospitalização, pronunciados no estágio grave. Alguns compostos de origem vegetal podem conferir efeitos benéficos no perfil da microbiota intestinal. A "microbiota desnutrida" pode ser capaz de predizer doenças críticas em idosos desnutridos hospitalizados. Investigações pré-clínicas e translacionais são necessárias para confirmar esses achados.

Esofagitis necrotizante aguda / Acute necrotizing esophagitis / Esofagite necrotizante aguda

La esofagitis necrotizante aguda es un trastorno poco común que puede ser causa de hemorragia digestiva alta. Predomina en el sexo masculino en la sexta década de la vida. El diagnóstico es endoscópico y muestra una mucosa esofágica de apariencia negra que afecta al esófago distal en toda su circunferencia y se detiene abruptamente en la unión gastroesofágica. Clínicamente suele presentarse con hematemesis y melenas, shock hipovolémico por sangrado masivo, siendo otras manifestaciones el dolor epigástrico, molestia retroesternal y disfagia. Se vincula a pacientes con antecedentes de enfermedad cardiovascular, alcoholismo, diabetes mellitus, desnutrición, hernia hiatal, estenosis gastroduodenal, cáncer, así como pacientes en shock, traumatizados, sometidos a cirugía mayor e inmunosuprimidos. El tratamiento se basa en fluidoterapia, inhibidores de la bomba de protones y suspensión de la vía oral, siendo controvertido el uso de antibioticoterapia. Su pronóstico es malo y dependerá de la gravedad de la enfermedad esofágica y del terreno del paciente, con una mortalidad de hasta el 36 %. Presentamos el caso clínico de un paciente de 81 años, hipertenso, que presenta hematemesis, confirmándose en la endoscopía una esofagitis necrotizante aguda, que evoluciona favorablemente con tratamiento médico.

Acute necrotizing esophagitis is a rare disorder that can cause upper gastrointestinal bleeding. It predominates in males in the sixth decade of life. The diagnosis is endoscopic and shows a black-appearing esophageal mucosa that affects the entire circumference of the distal esophagus and stops abruptly at the gastroesophageal junction. Usually, patients present with hematemesis and melena, with other manifestations such as epigastric pain, retrosternal discomfort, dysphagia, and hypovolemic shock. Almost all patients reported comorbidities: cardiovascular disease, alcoholism, diabetes mellitus, malnutrition, hiatal hernia, gastroduodenal stenosis, and malignant neoplasia; is related as well to patients with shock, trauma, undergoing major surgery, and immunosuppression. The treatment is based on fluid reposition, proton pump inhibitors and suspension of the oral route, the use of antibiotic therapy being controversial. Its prognosis is poor and will depend on the severity of the esophageal disease and the patient comorbidities, with a mortality rate up to 36 %. Case: A 81-year-old male patient with hypertension, who presented hematemesis, confirmed by endoscopy as acute necrotizing esophagitis, whose evolution was favorable with medical treatment.

A esofagite necrosante aguda é uma doença rara que pode causar hemorragia digestiva alta. Predomina no sexo masculino na sexta década de vida. O diagnóstico é endoscópico e mostra uma mucosa esofágica circunferencial difusa com aspecto preto que envolve quase universalmente o esôfago distal e para abruptamente na junção gastroesofágica. Clinicamente, geralmente se apresenta com hematêmese e melena, com outras manifestações sendo dor epigástrica, desconforto retroesternal, disfagia e choque hipovolêmico. Está relacionado a pacientes com histórico de doenças cardiovasculares, alcoolismo, diabetes mellitus, desnutrição, hérnia hiatal, estenose gastroduodenal e neoplasia maligna, bem como pacientes em choque, trauma, cirurgia de grande porte e imunossupressão. O tratamento é a medicação dietética higiênica baseada em fluidoterapia, inibidores da bomba de prótons e suspensão da via oral, sendo o uso de antibioticoterapia controverso. Seu prognóstico é ruim e dependerá da gravidade da doença esofágica e do terreno do paciente, com mortalidade de até 36 %. Apresentamos o caso clínico de um paciente hipertenso de 81 anos que apresentou hematêmese, confirmada por endoscopia como esofagite necrosante aguda, que evoluiu favoravelmente com tratamento higiênico-dietético e medicamentoso.

Reparación quirúrgica de rotura de tendón rotuliano con túneles transóseos: resultados funcionales a cinco años de seguimiento / Surgical repair of patellar tendon rupture using transosseous sutures

Introducción: Las roturas del tendón rotuliano son lesiones propias del paciente joven y deportista menor de cuarenta años. El objetivo de este trabajo es describir la técnica que utilizamos en nuestro centro y analizar los resultados funcionales del tratamiento de las roturas del tendón rotuliano empleando suturas transóseas como método de fijación. Materiales y métodos: se evaluó retrospectivamente a un grupo de diez pacientes con rotura aguda del tendón rotuliano, operados entre diciembre de 2014 y febrero de 2019. En todos se usaron suturas transóseas y en cuatro pacientes se realizó aumentación con cerclaje de alambre. El grupo de pacientes tenía una edad media de 36.4 años al momento de la cirugía. El tiempo promedio de seguimiento del grupo fue de doce meses. El protocolo de diagnóstico fue a través de la clínica e imágenes que comprendieron la radiografía y ecografía de partes blandas. Se documentó la evaluación funcional mediante la escala de Lysholm y los criterios del International Knee Documentation Committee (IKDC). Resultados: el promedio postoperatorio en la escala de Lysholm fue de 90 puntos (84-100) y según criterios del International Knee Documentation Committee, para el total de pacientes fue considerado normal o casi normal. Un paciente requirió tratamiento antibiótico en el postoperatorio. Conclusiones: la técnica utilizada en nuestro centro ha resultado sencilla desde el punto de vista técnico y de bajo costo desde lo económico, demostrando resultados clínicos excelentes. Por esta razón, se considera una opción válida en el tratamiento de las roturas agudas del tendón rotuliano. Tipo de Estudio: Serie de Casos. Nivel de Evidencia: IV

Introduction: Patellar tendon ruptures are typical injuries in young patients and athletes under forty years of age. The objective of this work is to describe the technique we use in our center and to analyze the functional results of the treatment of patellar tendon ruptures using transosseous sutures as a fixation method. Materials and methods: a group of ten patients with acute patellar tendon rupture, operated between December 2014 and February 2019, was retrospectively evaluated. Transosseous sutures were used in all of them and augmentation with wire cerclage was performed in four patients. The group of patients has a mean age of 36.4 years at the time of surgery. The group's average follow-up time was twelve months. The diagnostic protocol was through the clinic and images that included radiography and soft tissue ultrasound. The functional evaluation was documented using the Lysholm scale and the criteria of the International Knee Documentation Committee (IKDC). Results: the postoperative average on the Lysholm scale was 90 points (84-100) and according to the International Knee Documentation Committee criteria, all patients were considered normal or almost normal. One patient required antibiotic treatment postoperatively. Conclusions: the technique used in our center has been simple from a technical point of view and low cost from an economic point of view, demonstrating excellent clinical results. For this reason, it is considered a valid option in the treatment of acute patellar tendon ruptures.Type of study: Case Series. Level of Evidence: IV

Melanoma metastásico en intestino delgado: causa infrecuente de perforación: reporte de caso / Metastatic melanoma in the small intestine: infrequent cause of perforation: case report / Melanoma metastático em intestino delgado: causa rara de perfuração: relato de caso

El intestino delgado es el sitio de asiento más frecuente del melanoma metastásico. Su diagnóstico es un desafío por cursar asintomático o con síntomas inespecíficos. Son pocos los casos que presentan complicaciones, siendo infrecuente la peritonitis por perforación. El objetivo del trabajo es comunicar el caso clínico de una peritonitis por perforación de una metástasis de melanoma en intestino delgado. Caso clínico: Paciente de sexo masculino de 66 años con diagnóstico de melanoma de cuello y secundario óseo, encefálico y pulmonar, fue intervenido de urgencia por peritonitis aguda por perforación de metástasis en intestino delgado. El estudio histológico confirmó secundarismo de melanoma cutáneo. Conclusión: Sabiendo que el yeyuno íleon es el sitio de asiento más frecuente de las metástasis de melanoma, ante la presencia de síntomas digestivos inespecíficos o anemia se debe sospechar su compromiso y evaluar posibles alternativas terapéuticas.

The small intestine is the most frequent site of metastatic melanoma. However, its diagnosis continues to be a challenge since it is usually asymptomatic or with non-specific symptoms. Few cases result in complications, peritonitis due to perforation being infrequent. The objective of the work is to report a clinical case of peritonitis due to perforation of a melanoma metastasis in the small intestine. Clinical case: A 66-year-old male patient diagnosed with melanoma of the neck and secondary bone, brain and lung melanoma, underwent emergency surgery for acute peritonitis due to perforation of metastasis in the small intestine, which was resected and anastomosed. The histology confirmed the secondary nature of the cutaneous melanoma. Conclusion: Knowing that the jejunum-ileum is the most frequent site of melanoma metastases, in the presence of non-specific digestive symptoms or anemia, its involvement should be suspected and possible therapeutic alternatives should be evaluated.

O intestino delgado é o local mais frequente de melanoma metastático. O diagnóstico é um desafio por ser assintomático ou apresentar sintomas inespecíficos. Há poucos casos que apresentam complicações, sendo pouco frequente a peritonite por perfuração. O objetivo deste trabalho é relatar um caso clínico de peritonite por perfuração de metástase de melanoma no intestino delgado. Caso clínico: Paciente do sexo masculino, 66 anos, diagnosticado com melanoma no pescoço com metástase óssea, cefálica e pulmonar. Foi submetido a cirurgia de emergência por peritonite aguda por perfuração de metástases do intestino delgado. O estudo histológico confirmou melanoma cutâneo. Conclusão: Sabendo que o jejuno e o íleo é o local mais frequente de metástase de melanoma, na presença de sintomas digestivos inespecíficos ou anemia deve-se suspeitar de seu acometimento e avaliar possíveis alternativas terapêuticas.

Effect of early fluid balance on the prognosis in severe acute pancreatitis / 中华危重病急救医学

OBJECTIVE@#To observe the correlation between early fluid resuscitation and prognosis in patients with severe acute pancreatitis (SAP).@*METHODS@#SAP patients admitted to the department of critical care medicine of the People's Hospital of Chuxiong Yi Autonomous Prefecture of Yunnan Province from June 2018 to December 2020 were enrolled and analyzed retrospectively. All patients were given the routine treatment according to their condition and relevant diagnostic According to their different prognosis, enrolled patients were divided into death group and survival group. The differences in gender, age, acute physiology and chronic health evaluation II (APACHE II) and Ranson score on admission between the two groups were analyzed. Taking 24 hours as an observation day, the fluid inflow, outflow, and net balance at the first, second, and third 24 hours after admission were recorded, and the ratio of the fluid inflow at the first 24 hours to the total fluid inflow in 72 hours (FV24 h-1 st) was calculated as a study index. Using 33% as the standard, compare the proportion of patients in the two groups who achieved FV24 h-1 st < 33%. The differences of various indicators between the two groups were compared, and the effect of early fluid balance on the prognosis of SAP patients was analyzed.@*RESULTS@#Eighty-nine patients were included in the study (41 in the death group, 48 in the survival group). There were no statistically significant differences on age (years old: 57.6±15.2 vs. 49.5±15.2), gender (male: 61.0% vs. 54.2%), APACHE II score (18.0±2.4 vs. 17.3±2.3), and Ranson score (6.3±1.4 vs. 5.9±1.2) between the death group and the survival group at the time of admission on the intensive care unit (ICU) (all P > 0.05). The fluid intake of the death group in the first 24 hours, the second 24 hours and the third 24 hours after admission to ICU was significantly higher than that of the survival group, and the difference was statistically significant (mL: 4 138±832 vs. 3 535±1 058, 3 883±729 vs. 3 324±516, 3 786±490 vs. 3 212±609, all P < 0.05), and the fluid inflow in the death group at the first 24 hours was greater than 4 100 mL. After treatment, the fluid outflow of the death group at the three 24-hour periods after admission on the ICU was an increasing trend, but it was still significantly less than that of the survival group at the three 24-hour periods (mL: 1 242±465 vs. 1 795±819, 1 536±579 vs. 2 080±524, 1 610±585 vs. 2 932±752, all P < 0.01). Due to the fact that the total fluid inflow and total fluid outflow in the three 24-hour periods in the death group were more than those in the survival group, the net fluid balances in the three 24-hour periods in the death group were still significantly more than those in the survival group finally (mL: 2 896±782 vs. 1 740±725, 2 347±459 vs. 1 243±795, 2 176±807 vs. 338±289, all P < 0.01). There was no difference in FV24 h-1 st between the death group and survival group [FV24 h-1 st > 33%: 56.1% (23/41) vs. 54.2% (26/48), P > 0.05].@*CONCLUSIONS@#Fluid resuscitation is an important method for early treatment of SAP, but it also has many adverse reactions. Fluid resuscitation indexes such as fluid inflow, outflow, net balance, and FV24 h-1 st within 24 to 72 hours after admission are related to the prognosis of patients with SAP, and can be used as indicators to evaluate the prognosis of SAP. The optimized fluid resuscitation strategy can improve the prognosis of patients with SAP.

Research progress of hypertonic saline in early resuscitation of acute pancreatitis / 中华危重病急救医学

Local inflammatory reaction and microcirculation disturbance are the early manifestations of acute pancreatitis (AP). Studies have shown that early and reasonable fluid resuscitation of patients with AP can reduce related complications and prevent the deterioration to severe acute pancreatitis (SAP). Traditional isotonic crystalloid (such as Ringer solution) is considered to be a safe and reliable resuscitation solution, but too much and too fast infusion in the early stage of shock will increase the risk of complications such as tissue edema and abdominal compartment syndrome (ACS). Many scholars have found that hypertonic saline resuscitation solution has the advantages of reducing tissue and organ edema, rapidly restoring hemodynamics, inhibiting oxidative stress and inflammatory signal transduction, thereby improving the prognosis of AP patients and reducing the incidence of SAP and mortality. This article summarizes the mechanisms of hypertonic saline in the resuscitation treatment of AP patients in recent years, in order to provide reference for the clinical application and research of AP patients.

Application of machine learning model based on XGBoost algorithm in early prediction of patients with acute severe pancreatitis / 中华危重病急救医学

OBJECTIVE@#To establish a machine learning model based on extreme gradient boosting (XGBoost) algorithm for early prediction of severe acute pancreatitis (SAP), and explore its predictive efficiency.@*METHODS@#A retrospective cohort study was conducted. The patients with acute pancreatitis (AP) who admitted to the First Affiliated Hospital of Soochow University, the Second Affiliated Hospital of Soochow University and Changshu Hospital Affiliated to Soochow University from January 1, 2020 to December 31, 2021 were enrolled. Demography information, etiology, past history, and clinical indicators and imaging data within 48 hours of admission were collected according to the medical record system and image system, and the modified CT severity index (MCTSI), Ranson score, bedside index for severity in acute pancreatitis (BISAP) and acute pancreatitis risk score (SABP) were calculated. The data sets of the First Affiliated Hospital of Soochow University and Changshu Hospital Affiliated to Soochow University were randomly divided into training set and validation set according to 8 : 2. Based on XGBoost algorithm, the SAP prediction model was constructed on the basis of hyperparameter adjustment by 5-fold cross validation and loss function. The data set of the Second Affiliated Hospital of Soochow University was served as independent test set. The predictive efficacy of the XGBoost model was evaluated by drawing the receiver operator characteristic curve (ROC curve), and compared it with the traditional AP related severity score; variable importance ranking diagram and Shapley additive explanation (SHAP) diagram were drawn to visually explain the model.@*RESULTS@#A total of 1 183 AP patients were enrolled finally, of which 129 (10.9%) developed SAP. Among the patients from the First Affiliated Hospital of Soochow University and Changshu Hospital Affiliated to Soochow University, there were 786 patients in the training set and 197 in the validation set; 200 patients from the Second Affiliated Hospital of Soochow University were used as the test set. Analysis of all three datasets showed that patients who advanced to SAP exhibited pathological manifestation such as abnormal respiratory function, coagulation function, liver and kidney function, and lipid metabolism. Based on the XGBoost algorithm, an SAP prediction model was constructed, and ROC curve analysis showed that the accuracy for prediction of SAP reached 0.830, the area under the ROC curve (AUC) was 0.927, which was significantly improved compared with the traditional scoring systems including MCTSI, Ranson, BISAP and SABP, the accuracy was 0.610, 0.690, 0.763, 0.625, and the AUC was 0.689, 0.631, 0.875, and 0.770, respectively. The feature importance analysis based on the XGBoost model showed that the top ten items ranked by the importance of model features were admission pleural effusion (0.119), albumin (Alb, 0.049), triglycerides (TG, 0.036), Ca2+ (0.034), prothrombin time (PT, 0.031), systemic inflammatory response syndrome (SIRS, 0.031), C-reactive protein (CRP, 0.031), platelet count (PLT, 0.030), lactate dehydrogenase (LDH, 0.029), and alkaline phosphatase (ALP, 0.028). The above indicators were of great significance for the XGBoost model to predict SAP. The SHAP contribution analysis based on the XGBoost model showed that the risk of SAP increased significantly when patients had pleural effusion and decreased Alb.@*CONCLUSIONS@#A SAP prediction scoring system was established based on the machine automatic learning XGBoost algorithm, which can predict the SAP risk of patients within 48 hours of admission with good accuracy.

Serum lipoprotein-associated phospholipase A2 level is positively correlated with the recurrence risk of acute ischemic cerebral infarction in hypertensive patients / 南方医科大学学报

OBJECTIVE@#To explore the relationship between serum lipoprotein-associated phospholipase A2 (Lp-PLA2) level and the risk of acute ischemic stroke (AIS) recurrence in hypertensive patients.@*METHODS@#This retrospective case-control study was conducted among 211 hypertensive patients with AIS treated in Foshan First People's Hospital, including 35 patients with recurrence of AIS during the 1-year follow-up as confirmed by head CT/MR. In the overall patients, 60 had grade 1 hypertension (including 5 recurrent cases), 76 had grade 2 hypertension (with 11 recurrent cases), and 75 had grade 3 hypertension (with 19 recurrent cases). Univariate analysis, multivariate logistic regression analysis, trend analysis, and smooth curve fitting analysis were performed to explore the correlation between serum Lp-PLA2 level within 24 h after admission and the risk of AIS recurrence. The predictive efficacy of serum Lp-PLA2 level for AIS recurrence in different hypertension grades was evaluated using ROC curve analysis.@*RESULTS@#Serum Lp-PLA2 level, age, NIHSS score at admission, mRS scores at 7 days, homocysteine level and smoking status differed significantly between patients with and without AIS recurrence (P < 0.05). After adjustment for confounding factors, multivariate regression analysis showed that the highest tertile of Lp-PLA2 level was associated with a 4.13-fold increase of AIS recurrence risk compared with the lowest tertile (OR=5.13, 95% CI: 1.35-19.40), and each 1 ng/mL increase of Lp-PLA2 level was associated with a 1% increase of AIS recurrence risk (OR= 1.01, 95% CI: 1.01-1.02). Serum Lp-PLA2 level was shown to positively correlate with AIS recurrence risk, and in patients with grade 3 hypertension, its areas under the ROC curve for predicting AIS recurrence was 0.869 with a specificity of 0.893 and a sensitivity of 0.737.@*CONCLUSION@#Serum Lp-PLA2 concentration is an independent risk factor and potentially an effective predictor for AIS recurrence in patients with grade 3 hypertension.

Diagnosis and management of orbital and cranial complications of pediatric acute rhinosinusitis / 中华耳鼻咽喉头颈外科杂志

Objective: To review the clinical characteristics, to illustrate diagnosis and management experience of orbital and cranial complications of pediatric acute rhinosinusitis. Methods: The clinical data of 24 children with orbital and cranial complications of acute rhinosinusitis who received endoscopic sinus surgery combined with drug treatment in Beijing Children's Hospital from January 2017 to December 2021 were retrospectively reviewed. There were 19 boys and 5 girls. The age varied from 13 to 159 months, with a median 47.5 months. The following diagnoses were obtained: 12 isolated subperiosteal orbital abscess, 2 associated with preseptal abscess, 2 associated with intraorbital abscess, 7 associated with optic neuritis, and 1 associated with septic cavernous sinus thrombosis. Clinical characteristics, organism isolated and outcomes were analyzed through descriptive methods. Results: All 24 patients presented with fever; 9 presented with nasal congestion and purulent discharge. The clinical manifestations of orbital infection included orbital edema, pain, proptosis and displacement of globe in all patients, while visual impairment was recognized in 7 children. Purulent drainage was cultured in 17 patients, among which 12 were positive. All patients underwent nasal endoscopic surgical interventions uneventfully, excluding one patient who required a second surgical procedure. Follow-up period ranged from 5 to 64 months. All patients resolved fully, with the exception of 2 children who got permanent blindness with visual loss preoperative. There was no recurrence or death. Conclusions: Orbital and cranial complications of pediatric acute rhinosinusitis could be severe with an occult onset. For patients with vison impairment, any signs of intracranial complications and a lack of response to conservative management, an urgent endoscopic intervention is needed.

Clinical Analysis of Patients with Blastic Plasmacytoid Dendritic Cell Neoplasm / 中国实验血液学杂志

OBJECTIVE@#To explore the clinical characteristics, treatment, and prognosis of patients with blastic plasmacytoid dendritic cell neoplasm(BPDCN).@*METHODS@#Clinical data of 5 patients diagnosed with BPDCN in Wuhan First Hospital and Wuhan Tongji Hospital from June 2016 to November 2021 were retrospectively analyzed.@*RESULTS@#Among the 5 patients, 3 were male and 2 were female, with a median age of 28(10-52) years old. Four patients showed obvious skin damage at the initial diagnosis; the other one showed clinical manifestations of acute leukemia rather than obvious skin damage at the initial diagnosis, but infiltrated skin when the disease relapsed after treatment. Other infiltration sites of lesions included bone marrow (2/5), peripheral blood (2/5), lymph nodes (3/5), liver and spleen (2/5). All patients had no clinical manifestation of central nervous system infiltration. Tumor cell specific immune markers CD4, CD56, CD123 were all positive, and the median Ki-67 index was 70%. TET2, ASXL1 and NRAS gene mutations were found respectively in 3 patients by next-generation sequencing technique (NGS). ALL-like, AML-like and invasive NK/T cell lymphoma-like first-line induction chemotherapy regimens were used for the patients. One patient died of severe complications during the early stage of chemotherapy, 3 patients were evaluated as CR, and 1 patient was evaluated as PR. 2 patients were recurred and progressed after induction of chemotherapy, and one of them was evaluated as CR after re-treatment. One patient received autologous hematopoietic stem cell transplantation (auto-HSCT) and got long-term survival (OS 87 months). 3 patients received allogeneic hematopoietic stem cell transplantation (allo-HSCT), of which one died of transplantation related complications, and 2 cases survived. The median follow-up time of 4 patients with evaluable efficacy was 28.5(9-84) months, the median OS time was 31.5(10-87) months.@*CONCLUSION@#BPDCN is a highly heterogeneous malignant tumor with a poor prognosis. HSCT, especially allo-HSCT can significantly improve the prognosis of BPDCN patients.

Efficacy of CLAE Chemotherapy Regimen Followed by Allogeneic Hematopoietic Stem Cell Transplantation in Patients with Relapsed/Refractory Acute Leukemia / 中国实验血液学杂志

OBJECTIVE@#To observe the efficacy and safety of CLAE intensive chemotherapy followed by allogeneic hematopoietic stem cell transplantation (allo-HSCT) in patients with relapsed/refractory acute leukemia (R/R AL).@*METHODS@#CLAE regimen [cladribine 5 mg/(m2·d), d 1-5; cytarabine 1.5 g/(m2·d), d 1-5; etoposide 100 mg/(m2·d), d 3-5] followed by allo-HSCT was used to treat 3 R/R AL patients. The patients received CLAE chemotherapy in relapsed or refractory status and underwent bone marrow puncture to judge myelodysplastic state. After an interval of 3 to 5 days, followed by preconditioning regimen for allo-HSCT [fludarabine 30 mg/(m2·d), d -7 to d -3; busulfan 0.8 mg/kg q6h, d -6 to d -3 or d -5 to d -2. If the bone marrow hyperplasia was not active and the blasts were less than 10%, busulfan should be used for 3 days. If the bone marrow hyperplasia was active and the blasts were more than 10%, busulfan should be used for 4 days]. Cyclosporin A, mycophenolate mofetil and short-term methotrexate were used for graft-versus-host disease (GVHD) prevention. After transplantation, the status of minimal residual disease (MRD) and bone marrow chimerism were regularly monitored in all 3 patients, and demethylation drugs or dasatinib were used to prevent recurrence 3 months after transplantation.@*RESULTS@#2 patients with t(11;19) translocation and relapse/refractory acute myeloid leukemia recurred within 6 months after induction of remission, and received intensive chemotherapy with CLAE regimen followed by haploidentical allo-HSCT and unrelated donor allo-HSCT, respectively. The two patients both relapsed 6 months after transplantation, then achieved complete remission by donor lymphocyte infusion, interferon, interleukin-2 and other methods, and disease-free survival was 2 years after transplantation. The other patient was chronic myelogenous leukemia who developed acute lymphoblastic leukemia during oral administration of tyrosine kinase inhibitor, accompanied by T315I and E255K mutations in ABL1 kinase region and additional chromosomal abnormalities. After morphological remission by induction chemotherapy, central nervous system leukemia was complicated. Intensive chemotherapy with CLAE regimen followed by sibling allo-HSCT was performed in the positive state of MRD. The patient relapsed 3 months after transplantation, and achieved remission after chimeric antigen receptor T-cell (CAR-T) therapy, however, he died 5 months after transplantation because of severe cytokine release syndrome (CRS) and GVHD.@*CONCLUSION@#CLAE regimen followed by allo-HSCT may be an effective salvage treatment option for R/R AL patients to prolong the overall survival.

Research Progress of Next Generation Sequencing in Acute Leukemia --Review / 中国实验血液学杂志

With the advent of precision medicine, next-generation sequencing (NGS) is playing an increasingly important role in clinical oncology diagnosis and treatment with its advantages of high sensitivity, high accuracy, high efficiency and operability. NGS reveals the genetic characteristics of acute leukemia(AL) patients by screening for specific disease-causing genes to identify occult as well as complex genetic mutations in patients with AL, leading to early diagnosis and targeted drug therapy for AL patients, as well as to predict disease recurrence by detecting mnimal residual disease (MRD) and analyzing mutated genes to determine patient prognosis. NGS plays an increasingly important role in the diagnosis, treatment and prognosis assessment in AL, providing a direction for the pursuit of precision medicine. This paper reviews the research progress of NGS in AL.

Clinical Analysis of SET-NUP214 Fusion Gene Positive Patients with Acute Leukemia / 中国实验血液学杂志

OBJECTIVE@#To analyze the characteristics and prognosis of acute leukemia(AL) with SET-NUP214 fusion gene.@*METHODS@#The clinical data of 17 patients over 14 years old newly diagnosed with SET-NUP214 positive AL admitted in Institute of Hematology and Blood Diseases Hospital from August 2017 to May 2021 were analyzed retrospectively.@*RESULTS@#Among the 17 SET-NUP214 positive patients, 13 cases were diagnosed as T-ALL (ETP 3 cases, Pro-T-ALL 6 cases, Pre-T-ALL 3 cases, Medullary-T-ALL 1 case), AML 3 cases (2 cases M5, 1 case M0) and ALAL 1 case. Thirteen patients presented extramedullary infiltration at initial diagnosis. All 17 patients received treatment, and a total of 16 cases achieved complete remission (CR), including 12 cases in patients with T-ALL. The total median OS and RFS time were 23 (3-50) months and 21 (0-48) months, respectively. Eleven patients received allogeneic hematopoietic stem cell transplantation(allo-HSCT), with median OS time of 37.5 (5-50) months and median RFS time of 29.5 (5-48) months. The median OS time of 6 patients in chemotherapy-only group was 10.5 (3-41) months, and median RFS time of 6.5 (3-39) months. The OS and RFS of patients with transplantation group were better than those of chemotherapy-only group (P=0.038). Among the 4 patients who relapsed or refractory after allo-HSCT, the SET-NUP214 fusion gene did not turn negative before transplantation. While, in the group of 7 patients who have not relapsed after allo-HSCT till now, the SET-NUP214 fusion gene expression of 5 patients turned negative before transplantation and other 2 of them were still positive.@*CONCLUSION@#The fusion site of SET-NUP214 fusion gene is relatively fixed in AL patients, often accompanied by extramedullary infiltration. The chemotherapy effect of this disease is poor, and allo-HSCT may improve its prognosis.