Noncoding mutations drive persistence of a founder preleukemic clone which initiates late relapse in T-ALL.

ABSTRACT: T-ALL relapse usually occurs early but can occur much later, which has been suggested to represent a de novo leukemia. However, we conclusively demonstrate late relapse can evolve from a pre-leukemic subclone harbouring a non-coding mutation that evades initial chemotherapy.

Should Physicians Be Aware of Rhythm Disturbances in Adults with Systemic Autoimmune Diseases and Anti-Ro52 Antibodies? A Cross-Sectional Study.

Objectives: The association between anti-Ro/SSA antibodies and the appearance of cardiac rhythm disorders in adults is discussed. We aim to study this relationship, together with active treatments and comorbidities, and its impact on daily clinical practice in adults with systemic autoimmune diseases (SADs). Methods: This cross-sectional single-center study was conducted in a tertiary hospital between January 2021 and March 2022. A sample of adult patients followed up in the SAD Unit with a diagnosis of a SAD and previously tested for anti-Ro/SSA and anti-La/SSB were recruited. All of them underwent a 12-lead electrocardiogram. Results: 167 patients were included. 90 (53.9%) were positive for anti-Ro60, 101 (60.5%) for anti-Ro52, and 45 (26.9%) for anti-La/SSB; 52 (31.3%) were triple-negative. 84% were women, and the mean age was 59 years (standard deviation 12.8). The most common SAD was primary Sjögren's syndrome (34.8%), followed by systemic lupus erythematosus (24.6%) and rheumatoid arthritis (22.8%). A statistically significant relationship was found between anti-Ro52 positivity and cardiac rhythm disorders (relative risk = 2.007 [1.197-3.366]), specifically QTc prolongation (relative risk = 4.248 [1.553-11.615]). Multivariate regressions showed a significant association, with diabetes mellitus being the most related comorbidity. The association between anti-Ro52 antibodies and atrioventricular conduction disorders was not significant. Conclusions: The presence of anti-Ro52 antibodies in adult patients with SADs is associated with an increased risk of QTc prolongation. Electrocardiographic screening of patients with SAD, anti-Ro52 antibodies, and other risk factors, like diabetes mellitus or QT-prolonging drugs, seems advisable. Those with baseline electrocardiogram abnormalities or additional risk factors should undergo electrocardiographic monitoring.

TAV-in-TAV in patients with prosthesis embolization: Impact of commissural alignment and global outcomes.

BACKGROUND: Optimal strategies to manage embolization of transcatheter aortic valve implantation (TAVI) devices are unclear; valve-in-valve (ViV) is often used. We aimed to describe through one-single center experience its rate, causes, consequences, and management as well as the rate and relevance of commissural alignment (CA) in this context. METHODS: We identified across 1038 TAVI cases, those cases requiring ViV for the management of first device embolization. CA (absence or mild misalignment) after first and second device was assessed by CT or fluoroscopy. RESULTS: A total of 23 cases (2.2%) were identified, 52.3% embolized towards the aorta and 47.7% towards the ventricle. Suboptimal implant height (38%) and embolization at the time of post-dilation (23%) were the most frequent mechanisms together with greater rate of bicuspid valve (p < 0.001) and a trend to greater annular eccentricity. Procedural and 1-year death occurred in 13% and 34%, respectively (vs. 1.1% and 7.8% in the global cohort, p < 0.001). CA was present in 76.9% of the prostheses initially implanted but was only spontaneously achieved in 30.8% of the second ViV device. Adequate CA of both prostheses was identified in only two cases (8.7%). There were no cases of coronary obstruction. CONCLUSIONS: TAVI device embolization mechanisms can often be predicted and prevented. Mortality following bail-out ViV is higher than in regular TAVI procedures but 2/3 of these patients survived beyond 1-year follow-up. In them, valve degeneration or coronary re-access might be particularly challenging since CA was rarely achieved with both devices suggesting that greater efforts should be made in this regard.

Diverticulitis apendicular, como diagnóstico diferencial / Appendiceal diverticulitis as differential diagnosis

RESUMEN La diverticulitis apendicular (DA) es una patología poco frecuente, considerada clínicamente indistinguible de la apendicitis aguda, aunque podría presentar una sintomatología más leve. Este es el caso de un paciente masculino de 59 años, que concurre al Servicio de Urgencias presentando signos y síntomas sugestivos de una apendicitis aguda; una ecografía informa un asa tubular parcialmente compresible de 7,8 mm de diámetro y una fina banda de líquido laminar, compatible con proceso apendicular agudo. La apendicectomía se realizó de manera convencional evidenciándose un apéndice inflamado principalmente en su región distal. La histología reveló diverticulitis apendicular complicada con rotura. El paciente evolucionó favorablemente y se externó a las 24 horas. Existe una asociación de DA y neoplasia apendicular, por lo que se recomienda una colonoscopia y el seguimiento de este tipo de pacientes.

ABSTRACT Appendiceal diverticulitis (AD) is a rare condition considered clinically identical to acute appendicitis although it may present milder symptoms. We report the case of a 59-year-old male patient who visited the emergency department due to signs and symptoms suggestive of acute appendicitis. An abdominal ultrasound showed partially compressible tubular loop with a diameter of 7.8 mm and a thin band of laminar fluid, consistent with acute appendiceal process. During conventional appendectomy the appendix had signs of inflammation, mainly in the distal region. The histology revealed appendiceal diverticulitis complicated with rupture. The patient had favorable outcome and was discharged 24 hours later. As, there is a clear association between AD and appendiceal neoplasms, colonoscopy and patient monitoring is recommended.

Manejo laparoscópico de las hernias ventrales mediante abordaje totalmente extraperitoneal (eTEP): experiencia inicial y resultados a corto plazo / Laparoscopic Management of Ventral Hernias by Totally Extraperitoneal (eTEP) Approach: Initial Experience and Short-Term Results / Manejo laparoscópico de hérnias ventrais usando uma abordagem totalmente extraperitoneal (eTEP): experiência inicial e resultados em curto prazo

Introducción. El manejo de la hernia ventral sigue siendo un desafío para los cirujanos. Su reparación mediante técnicas mínimamente invasivas, como la totalmente extraperitoneal (eTEP) laparoscópica, permite una amplia disección del espacio a reparar, una recuperación postoperatoria más rápida, menor dolor postoperatorio y estancia hospitalaria. El abordaje eTEP es un enfoque novedoso que utiliza el espacio retromuscular para colocar material protésico y fortalecer la pared abdominal. El objetivo es describir los resultados a corto plazo de nuestra experiencia inicial con la técnica eTEP en el manejo de las hernias ventrales. Metodología. Estudio observacional, descriptivo, retrospectivo, donde se incluyen pacientes con el diagnóstico de hernia ventral, sometidos a cirugía laparoscópicaeTEP, entre julio-2021 y junio-2022. Resultados. De un total de 21 pacientes, el 61.9% fueron hombres. El 47.6% tenían sobrepeso y el 52.4% obesidad. Estancia hospitalaria media: 1.6 días. El 66.7% fueron hernias incisionales. Las técnicas quirúrgicas realizadas fueron: Rives-Stoppa (71.4%) asociándose liberación del músculo transverso en el 28.6%. El 19% de los pacientes presentaron complicaciones globales y solo uno fue grave, requiriendo reintervención quirúrgica. Se observó la presencia de seroma clínico en el 9.5% y ecográfico en 57.1%. No se evidenciaron hematomas, infección de herida quirúrgica ni casos de recidiva herniaria. Discusión y conclusiones. El abordaje laparoscópico eTEP Rives-Stoppa, asociado o no a separación posterior de componentes, en el manejo de las hernias ventrales ofrece buenos resultados asociando una baja incidencia de complicaciones postoperatorias, corta estancia hospitalaria, baja incidencia de recidivas herniarias, por lo que podría considerarse una técnica segura y efectiva en el tratamiento de las hernias ventrales.

Introduction. Managing ventral hernia remains a challenge for surgeons. Repairing it using minimally invasive techniques, such as laparoscopic totally extraperitoneal (eTEP), which allows for a wide dissection of the space to be repaired, faster postoperative recovery, less postoperative pain and shorter hospital stay. The eTEP approach is a novel technique that focus on the uses of the retromuscular space to place prosthetic material and strengthen the abdominal wall. The objective is to describe the short-term results of our initial experience with the eTEP technique in the management of ventral hernias. Methodology. Observational, descriptive, retrospective, study, which included patients with a diagnosis of ventral hernia, undergoing laparoscopic eTEP surgery, between July-2021 and June-2022. Results. Of a total of 21 patients, 61.9% were men. 47.6% were overweight and 52.4% were obese. Average hospital stay: 1.6 days. 66.7% were incisional hernias. The surgical techniques performed were: Rives-Stoppa (71.4%) with associated transversus abdominis muscle release in 28.6%. 19% of the patients presented global complications and only one was severe, requiring surgical reintervention. The presence of clinical seroma was observed in 9.5% and ultrasound in 57.1%. There was no evidence of hematomas, surgical wound infection or cases of hernia recurrence. Discussion and conclusions. The laparoscopic-eTEP Rives-Stoppa approach, associated or not with posterior separation of components, in the management of ventral hernias offers good results with a low incidence of postoperative complications, short hospital stay, low incidence of hernia recurrences, so it could be considered a safe and effective technique in the treatment of ventral hernias.

Introdução. O manejo da hérnia ventral continua sendo um desafio para os cirurgiões. Seu reparo por meio de técnicas minimamente invasivas, como a totalmente extraperitoneal (eTEP) laparoscópica, permite ampla dissecção do espaço a ser reparado, recuperação pós-operatória mais rápida, menor dor pós-operatória e menor tempo de internação. A abordagem eTEP é uma nova abordagem que usa o espaço retromuscular para colocar material protético e fortalecer a parede abdominal. O objetivo é descrever os resultados de curto prazo de nossa experiência inicial com a técnica eTEP no manejo de hérnias ventrais. Metodologia. Estudo observacional, descritivo, retrospectivo, longitudinal, que inclui pacientes com diagnóstico de hérnia ventral, submetidos a cirurgia laparoscópica-eTEP, entre julho-2021 e junho-2022. Resultados. De um total de 21 pacientes, 61.9% eram homens; 47.6% estavam com sobrepeso e 52.4% obesos. Tempo médio de internação: 1.6 dias; 66.7% eran hérnias incisionais. As técnicas cirúrgicas realizadas foram: Rives-Stoppa (71.4%) associada à liberação do músculo transverso em 28.6%. 19% dos pacientes apresentaram complicações globais e apenas um foi grave, necesitando de reintervenção cirúrgica. A presença de seroma clínico foi observada em 9.5% e ultrassonográfica em 57.1%. Não houve evidência de hematoma, infecção de ferida cirúrgica ou casos de recidiva de hérnia. Discussão e conclusões. A abordagem laparoscópica eTEP Rives-Stoppa, associada ou não à separação posterior dos componentes, no manejo das hérnias ventrais oferece bons resultados associando baixa incidência de complicações pós-operatórias, curto tempo de internação, baixa incidência de recidivas de hérnias, pelo que pode ser considerada uma técnica segura e eficaz no tratamento das hérnias ventrais.