Natural History of MYH7-Related Dilated Cardiomyopathy

BACKGROUND Variants in myosin heavy chain 7 (MYH7) are responsible for disease in 1% to 5% of patients with dilated cardiomyopathy (DCM); however, the clinical characteristics and natural history of MYH7-related DCM are poorly described. OBJECTIVES We sought to determine the phenotype and prognosis of MYH7-related DCM. We also evaluated the influence of variant location on phenotypic expression. METHODS We studied clinical data from 147 individuals with DCM-causing MYH7 variants (47.6% female; 35.6 +/- 19.2 years) recruited from 29 international centers. RESULTS At initial evaluation, 106 (72.1%) patients had DCM (left ventricular ejection fraction: 34.5% +/- 11.7%). Median follow-up was 4.5 years (IQR: 1.7-8.0 years), and 23.7% of carriers who were initially phenotype-negative developed DCM. Phenotypic expression by 40 and 60 years was 46% and 88%, respectively, with 18 patients (16%) first diagnosed at <18 years of age. Thirty-six percent of patients with DCM met imaging criteria for LV noncompaction. During follow-up, 28% showed left ventricular reverse remodeling. Incidence of adverse cardiac events among patients with DCM at 5 years was 11.6%, with 5 (4.6%) deaths caused by end-stage heart failure (ESHF) and 5 patients (4.6%) requiring heart transplantation. The major ventricular arrhythmia rate was low (1.0% and 2.1% at 5 years in patients with DCM and in those with LVEF of <= 35%, respectively). ESHF and major ventricular arrhythmia were significantly lower compared with LMNA-related DCM and similar to DCM caused by TTN truncating variants. CONCLUSIONS MYH7-related DCM is characterized by early age of onset, high phenotypic expression, low left ventricular reverse remodeling, and frequent progression to ESHF. Heart failure complications predominate over ventricular arrhythmias, which are rare. (C) 2022 The Authors. Published by Elsevier on behalf of the American College of Cardiology Foundation

Hemobilia: una complicacion poco común de la colecistectomia.

Hemobilia is defined as the presence of blood into the biliary tree characterized by the triade: jaundice, right hipochrondrium pain and upper gastrointestinal bleeding. Among the etiologies highlighted in order of frequency there are: liver trauma (accidental and iatrogenic), inflammatory causes, ionfections and vascular diseases. There are many complementary tests for the diagnosis of hemobilia, such as imaging, endoscopic and angiography; the latter being considered the diagnostic tool and therapeutic modality of choice.Er report the case of a 25-year-old female patient with iatrogenic hemobilia produced during the practice of cholecystectomy.Hemobilia es definida como la presencia de sangre en el árbol biliar caracterizada por la tríada clásica: ictericia, dolor en hipocondrio derecho y hemorragia digestiva alta. Las causas etiología es múltiple, destacando en orden de frecuencia los traumatismos hepáticos (accidental o iatrogénico), las inflamaciones, las infecciones y las vasculares. Para el diagnóstico se dispone de diversos métodos complementarios, como imágenes, endoscopia y angiografía; esta última no solo como procedimiento diagnóstico sino como modalidad terapéutica de elección.Se presenta el caso clínico de un paciente mujer, de 25 años de edad, con hemobilia por iatrogenia producida durante la práctica de una colecistectomía.

Hemobilia: un unusual complication of cholecystectomy.

Abstract: Hemobilia is defined as the presence of blood into the biliary tree characterized by the triade: jaundice, right hipochrondrium pain and upper gastrointestinal bleeding. Among the etiologies highlighted in order of frequency there are: liver trauma (accidental and iatrogenic), inflammatory causes, ionfections and vascular diseases. There are many complementary tests for the diagnosis of hemobilia, such as imaging, endoscopic and angiography; the latter being considered the diagnostic tool and therapeutic modality of choice. Er report the case of a 25-year-old female patient with iatrogenic hemobilia produced during the practice of cholecystectomy

Recomendaciones de actuación en cirugía oncológica hepatobiliopancreática durante la pandemia COVID-19.

The SARS-CoV-2 (COVID-19) pandemic requires an analysis in the field of oncological surgery, both on the risk of infection, with very relevant clinical consequences, and on the need to generate plans to minimize the impact on possible restrictions on health resources. The AEC is making a proposal for the management of patients with hepatopancreatobiliary (HPB) malignancies in the different pandemic scenarios in order to offer the maximum benefit to patients, minimising the risks of COVID-19 infection, and optimising the healthcare resources available at any time. This requires the coordination of the different treatment options between the departments involved in the management of these patients: medical oncology, radiotherapy oncology, surgery, anaesthesia, radiology, endoscopy department and intensive care. The goal is offer effective treatments, adapted to the available resources, without compromising patients and healthcare professionals safety

Switching TNF antagonists in patients with chronic arthritis: An observational study of 488 patients over a four-year period

The objective of this work is to analyze the survival of infliximab, etanercept and adalimumab in patients who have switched among tumor necrosis factor (TNF) antagonists for the treatment of chronic arthritis. BIOBADASER is a national registry of patients with different forms of chronic arthritis who are treated with biologics. Using this registry, we have analyzed patient switching of TNF antagonists. The cumulative discontinuation rate was calculated using the actuarial method. The log-rank test was used to compare survival curves, and Cox regression models were used to assess independent factors associated with discontinuing medication. Between February 2000 and September 2004, 4,706 patients were registered in BIOBADASER, of whom 68% had rheumatoid arthritis, 11% ankylosing spondylitis, 10% psoriatic arthritis, and 11% other forms of chronic arthritis. One- and two-year drug survival rates of the TNF antagonist were 0.83 and 0.75, respectively. There were 488 patients treated with more than one TNF antagonist. In this situation, survival of the second TNF antagonist decreased to 0.68 and 0.60 at 1 and 2 years, respectively. Survival was better in patients replacing the first TNF antagonist because of adverse events (hazard ratio (HR) for discontinuation 0.55 (95% confidence interval (CI), 0.34-0.84)), and worse in patients older than 60 years (HR 1.10 (95% CI 0.97-2.49)) or who were treated with infliximab (HR 3.22 (95% CI 2.13-4.87)). In summary, in patients who require continuous therapy and have failed to respond to a TNF antagonist, replacement with a different TNF antagonist may be of use under certain situations. This issue will deserve continuous reassessment with the arrival of new medications. © 2006 Gomez-Reino and Loreto Carmona; licensee BioMed Central Ltd