Phenotypic severity in a family with MEND syndrome is directly associated with the accumulation of potentially functional variants of cholesterol homeostasis genes.

Background: Male EBP disorder with neurologic defects (MEND) syndrome is an X-linked disease caused by hypomorphic mutations in the EBP (emopamil-binding protein) gene. Modifier genes may explain the clinical variability among individuals who share a primary mutation.

Methods: We studied four males (Patient 1 to Patient 4) exhibiting a descending degree of phenotypic severity from a family with MEND syndrome.

Diagnostic utility of Gallium-68-somatostatin receptor PET/CT in ectopic ACTH-secreting tumors: a systematic literature review and single-center clinical experience.

Purpose: Tumors causing ectopic Cushing's syndrome (ECS) are often not visible with conventional imaging. Gallium-68-DOTATATE, DOTATOC, and DOTANOC positron emission tomography/computed tomography (Ga-SSTR PET/CT) reportedly exhibits greater sensitivity in identifying an ECS source, however, evidence is limited to mainly case reports and a few small retrospective studies. Previous systematic ECS imaging review has shown Ga-SSTR PET/CT sensitivity is similar to CT (81.

One-day point prevalence of healthcare-associated infections and antimicrobial use in four countries in Latin America.

Background And Aims: Experience in the region shows that in some countries there is very good surveillance of Healthcare-associated infections (HAIs) in health services, but there is no national data consistently in all countries. Therefore, we set to estimate the total burden of HAIs and antimicrobial use in acute care hospitals in Brazil, Venezuela, Mexico, and Colombia using the one-day point prevalence methodology.

Methods: The survey was conducted between June and July 2016.

Red Scrotum Syndrome Treatment with Pregabalin: A Case Series.

Red scrotum syndrome (RSS) (also known as male genital dysesthesia) is a rarely recognized entity characterized by scrotal erythema accompanied by a burning sensation, pain, hyperesthesia/dysesthesia, increased temperature and pruritus. Although its physiopathology is unknown, it has increasingly been associated with chronic topical steroid use in the male genital area. Treatment is challenging and no standardized treatment is currently available.

A Bioactive Cartilage Graft of IGF1-Transduced Adipose Mesenchymal Stem Cells Embedded in an Alginate/Bovine Cartilage Matrix Tridimensional Scaffold.

Articular cartilage injuries remain as a therapeutic challenge due to the limited regeneration potential of this tissue. Cartilage engineering grafts combining chondrogenic cells, scaffold materials, and microenvironmental factors are emerging as promissory alternatives. The design of an adequate scaffold resembling the physicochemical features of natural cartilage and able to support chondrogenesis in the implants is a crucial topic to solve.

Eosinophils and Respiratory Viruses.

Eosinophils have been mainly associated with parasitic infection and pathologies such as asthma. Some patients with asthma present a high number of eosinophils in their airways. Since respiratory viruses are associated with asthma exacerbations, several studies have evaluated the role of eosinophils against respiratory viruses.

Medical Management of Cushing's Syndrome: Current and Emerging Treatments.

Endogenous Cushing's syndrome is a chronic disease associated with increased morbidity and mortality if not appropriately treated. Recurrence and/or persistence of hypercortisolemia after surgical treatment, especially for Cushing's disease, are high, and long-term medical treatment is used to decrease cortisol levels and risk of metabolic comorbidities. Medical treatment is also often required while waiting for radiation effects to take place.

Acral bullous lichen sclerosus intolerant to UVA-1 successfully treated with narrowband ultraviolet B phototherapy.

Lichen sclerosus (LS) is an uncommon, chronic, lymphocyte-mediated, inflammatory dermatosis characterized by ivory-white patches with scar-like atrophy. Extragenital bullous lichen sclerosus may rarely affect palms and soles, causing severe pain and substantially impairing quality of life. We present the first case of acral bullous lichen sclerosus intolerant to UVA-1 phototherapy successfully treated with low doses of narrowband ultraviolet B phototherapy.

Osler-Weber-Rendu Syndrome in Relation to Dermatology.

Osler-Weber-Rendu syndrome, also known as hereditary hemorrhagic telangiectasia, is a rare autosomal dominant disorder with an estimated worldwide prevalence of 1 case per 10,000 population. Its clinical manifestations are the result of arteriovenous malformations characterized by telangiectases that can affect the skin, mucous membranes, and solid organs and cause life-threatening conditions, such as liver disease, systemic emboli, and heart failure. Timely diagnosis is thus essential in order to prevent disease-related complications and offer genetic counseling to families.

Impact of ursodeoxycholic acid on circulating lipid concentrations: a systematic review and meta-analysis of randomized placebo-controlled trials.

Objective: The aim of this meta-analysis of randomized placebo-controlled trials was to examine whether ursodeoxycholic acid treatment is an effective lipid-lowering agent.

Methods: PubMed-Medline, SCOPUS, Web of Science and Google Scholar databases were searched in order to find randomized controlled trials evaluating the effect of ursodeoxycholic acid on lipid profile. A random-effect model and the generic inverse variance weighting method were used for quantitative data synthesis.

Lipid-Lowering Agents in Older Individuals: A Systematic Review and Meta-Analysis of Randomized Clinical Trials.

Background: The efficacy of lipid-lowering agents on patient-important outcomes in older individuals is unclear.

Methods: We included randomized trials that enrolled individuals aged 65 years or older and that included at least 1 year of follow-up.Pairs of reviewers selected and appraised the trials.

2019 update of the WSES guidelines for management of () infection in surgical patients.

In the last three decades, infection (CDI) has increased in incidence and severity in many countries worldwide. The increase in CDI incidence has been particularly apparent among surgical patients. Therefore, prevention of CDI and optimization of management in the surgical patient are paramount.

Capillaroscopy: A Valuable Diagnostic Tool.

Capillaroscopy produces in vivo images of skin microcirculation. It is a simple, noninvasive tool for analyzing microvascular abnormalities and, as such, can be used in both adults and children. Capillaroscopy has proven useful in many diseases, but it is of particular value in Raynaud phenomenon and other autoimmune diseases.

Restless legs syndrome in end-stage renal disease patients undergoing hemodialysis.

Objectives: Restless legs syndrome (RLS) is a frequent complication of hemodialysis that has been associated with poor quality of life and increased risk for complications. Nevertheless, few studies regarding this entity exist in resource-limited settings. To determine the prevalence of RLS among Mexican patients on hemodialysis; and compare these patients with a control group of the same population.

Does fetoscopic or open repair for spina bifida affect fetal and postnatal growth?

Objective: The effect of fetoscopic myelomeningocele (MMC) repair on fetal growth is unknown. Fetal surgery itself and/or exposure to a carbon dioxide (CO ) environment during spina bifida repair may affect placental function and impair fetal growth. Our aim was to assess and compare growth in fetuses, neonates and infants who underwent prenatal fetoscopic or open MMC repair.

Human amniotic membrane intra-articular injection prevents cartilage damage in an osteoarthritis model.

Osteoarthritis (OA) is a degenerative joint disease that affects the soft tissues and bones of involved articulations as a result of deregulation between synthesis and extracellular matrix degradation in articular cartilage. The present study evaluated the effect of intra-articular injection of human amniotic membrane (AM) as a treatment in an OA animal model in the knee. Chemical OA was developed in the knees of New Zealand rabbits.

Epidemiologic Profile of Erectile Dysfunction in Patients with Systemic Lupus Erythematosus: The Latin American Landscape.

Objective: The aim of this study was to describe the prevalence of erectile dysfunction (ED), as well as associated demographic and clinical features, in men with systemic lupus erythematosus (SLE), by means of a systematic, standardized evaluation.

Methods: We performed a transversal study in 8 tertiary care centers in Latin America. We included male patients ≥ 16 years who fulfilled ≥ 4 American College of Rheumatology criteria for SLE and had regular sexual activity, and evaluated them with the International Index of Erectile Function-5 questionnaire.

Participants' awareness of ethical compliance, safety and protection during participation in pharmaceutical industry clinical trials: a controlled survey.

Background: The rapid increase of industry-sponsored clinical research towards developing countries has led to potentially complex ethical issues to assess. There is scarce evidence about the perception of these participants about the ethical compliance, security, and protection. We sought to evaluate and contrast the awareness and perception of participants and non-participants of industry-sponsored research trials (ISRT) on ethical, safety, and protection topics.

Sir William Osler's 'Influences' for the Successful Physician, A Reappraisal After 126 Years.

Background: The vertiginous pace with which modern medicine advances, can seem overwhelming to students and young doctors.

Aim Of The Study: To reappraise an oration by William Osler delivered to medical students at the point of their graduation.

Methods: Narrative review.