Altered chromatin landscape and 3D interactions associated with primary constitutional MLH1 epimutations.

Background: Lynch syndrome (LS), characterised by an increased risk for cancer, is mainly caused by germline pathogenic variants affecting a mismatch repair gene (MLH1, MSH2, MSH6, PMS2). Occasionally, LS may be caused by constitutional MLH1 epimutation (CME) characterised by soma-wide methylation of one allele of the MLH1 promoter. Most of these are "primary" epimutations, arising de novo without any apparent underlying cis-genetic cause, and are reversible between generations.

[Clinical approach to the patient with obesity document by the Argentine Society of Medicine, the Uruguayan Society of Internal Medicine, and the International Forum of Internal Medicine].

Obesity is one of the non-communicable chronic diseases with the highest increase in recent decades in Latin America, affecting children, adolescents, and especially young adults. Forty percent of adults have a body mass index greater than 25 kg/m2. Numerous studies have demonstrated a relationship between obesity and cardiovascular diseases such as hypertension, coronary artery disease, heart failure, cardiac arrhythmias, diabetes, sleep apnea, and oncological diseases, among others.

Ropivacaine-epinephrine-clonidine-ketorolac is an effective opioid-sparing local anesthetic for patients undergoing posterior spinal fusion.

Background Context: Ropivacaine-Epinephrine-Clonidine-Ketorolac (RECK) cocktail can improve pain control in patients undergoing lumbar decompression. Given the aging population, rising healthcare costs, the opioid epidemic, and associations of acute pain control with long-term opioid use, effective opioid-sparing analgesia following spinal fusion surgery may impart societal benefits.

Purpose: We aimed to investigate whether RECK was an effective local anesthetic for patients undergoing posterior spinal fusion.

Use of a novel lag screw by technique approach for repair of a severe lumbar fracture associated with ankylosing spondylitis: A technical case report.

Background: The lag screw is a common technique and device used in orthopedic surgery for compressing simple fractures. Here, a lag screw was used to treat a traumatic L5-S1 fracture in a 53-year-old patient with ankylosing spondylitis (AS) resulting in 15 mm of anterior subluxation.

Case Description: A 53-year-old patient with AS resulting in 15 mm of anterior subluxation was successfully managed with a lag screw instrumented fusion.

Toxic epidermal necrolysis: management strategies in burns units.

Objective: The most common severe exfoliative condition is toxic epidermal necrolysis (TEN), also known as Lyell's syndrome, for which patients may sometimes require admission to hospital burns units. This study analyses the experience of the authors and results in this condition at the Cruces University Hospital in Bilbao, Spain.

Method: Over the last 22 years, the authors carried out a retrospective analytical observational study of TEN cases at the hospital and analysed risk factors including age, associated comorbidities, percentage of body surface area affected, positive bacterial culture, and treatment strategies used to assess their potential influence on prognosis.