Severe immunodeficiency spectrum associated with NHEJ1 gene mutation: Cernunnos/XLF deficiency.

Cernunnos/XLF deficiency is a rare, severe combined immunodeficiency, inherited in an autosomal recessive pattern (OMIM number: 611290), related to the NHEJ1 gene. This gene participates in the DNA non-homologous end-joining pathway, repairing double-strand breaks in the DNA of mammalian cells. The clinical features include growth retardation, microcephaly, triangle-shaped face, recurrent infections, fibroblast's excessive sensitivity to gamma-ionizing radiation, and hypogammaglobulinemia; also, low counts of subpopulations of B and T lymphocytes, with normal values of natural-killer cells.

Semaglutide Effects on Metabolic Outcomes in Diabetes Mellitus Patients - Real World Study.

Purpose: Diabetes is a public health problem that requires strategies to impact glycemic control and reduce the risk of long-term medical complications. Pharmacological management is a necessary treatment for this disease. Therefore, semaglutide is an essential tool to achieve the treatment targets.

Viral Cardiomyopathies Associated With SARS-CoV-2 Infection.

Context: Since the end of 2019 with the identification of the new coronavirus SARS-CoV-2 and the disease it produces, named COVID-19, various manifestations have been described, initially pulmonary due to acute and severe respiratory syndromes, now systemic manifestations have been described.

Case Report: We report 3 cases of patients with cardiovascular manifestations associated with SARS-CoV-2 infection, highlighting the diagnostic approach and variety of presentation, from acute myocardial infarction, myocarditis, heart failure, shock, arrhythmias to sudden death.

Conclusions: Every day is more frequent to find reports of patients with cardiovascular compromise during COVID-19 affecting the development and prognosis of this disease.

Prevalencia de problemas de sueño en mujeres climatéricas colombianas durante la pandemia COVID-19.

Objective: To make an approximation to the prevalence of sleep disorders in Colombian menopausal women during the COVID-19 pandemic

Materials And Methods: Cross-sectional study as part of the Quality of Life in Menopause and Colombian Ethnic Groups research project [CAVIMEC+COVID STUDY]. The population consisted of women born and residing in Colombia, 40 to 59 years of age, who signed an informed consent and agreed to participate by completing an online form, freely and anonymously, in the first five days of June 2020. Sleep disorders were identified using the third item on the Menopause Rating Scale.

National registry of haemophilia and other coagulopathies: A multisector initiative in the Colombian Health System.

Introduction: Haemophilia is an orphan and high-cost disease worldwide and, especially in middle-income countries as Colombia. Given its burden of disease, in 2014, a national administrative registry was created to centralize demographic, clinical and economic information regarding to haemophilia and other coagulopathies.

Objective: To describe the building and implementation processes of the Colombian registry of haemophilia and other coagulopathies.

Technical and clinical evaluation of a closed loop TIVA system with SEDLine spectral density monitoring: Multicentric prospective cohort study.

Introduction: Closed loop total intravenous anesthesia is a technique in which the patient's hemodynamic and anesthetic depth variables are monitored, and based on this information, a computer controls the infusion rate of drugs to keep them within pre-established clinical parameters.

Objective: To describe the technical and clinical performance of a closed loop system for total intravenous anesthesia with propofol and remifentanil, using the SEDLine monitor.

Design: Multicentric prospective cohort study.

Gastrocystoplasty and Hematuria-dysuria Syndrome. What Role Plays Helicobacter Pylori? Case Report and Literature Review.

49 years male, who comes to the urology department, complaining of 8 months of lower abdominal pain, burning and oppressive type, of variable intensity reaching 9/10, which is occasionally exacerbated by urination, associated with intermittent gross hematuria, dysuria, refers no fever at any time. Patient with past medical history of bladder and right kidney Tuberculosis (TBC) 25 years ago, treated with a simple right nephrectomy and bladder augmentation with antrum segment of stomach, for low bladder capacity. Never showed any symptom during those 25 years lapsing time.