[Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients].

Introduction: KMT2B-related dystonia is a childhood-onset movement disorder characterized by focal dystonia of the lower extremities progressing to generalized dystonia with predominant cervical, cranial, and laryngeal involvement. So far, fewer than 100 variants have been reported, the vast majority being de novo mutations. The presenting frame of KMT2B dystonia, with dysmorphology features and other complex neurologic symptoms shows the spectrum of KMT2B dystonia as a probable syndromic disease, rather than an isolated early-onset dystonia, which has been the classic view of the condition.

Plastic ingestion in giant tortoises: An example of a novel anthropogenic impact for Galapagos wildlife.

The human population of Galapagos has rapidly increased in the last decades accelerating the anthropogenic pressures on the archipelago's natural resources. The growing human footprint, including inadequate management of garbage, may lead to conservation conflicts. Here, we assessed the ingestion of debris by Western Santa Cruz giant tortoises (Chelonoidis porteri) within human-modified and protected areas.

SARS-CoV-2 vaccination in paediatric patients with epilepsy: experience of a tertiary center in Colombia.

Aim: The objective of this study is to evaluate effects of SARS-CoV-2 vaccination on seizure pattern in paediatric patients with epilepsy that attended our tertiary center in the city of Bogota, Colombia.

Patients And Methods: Children with epilepsy who were treated at our center and have had SARS-CoV-2 vaccination and their caregivers were asked to report their experience following vaccination. We documented age, sex, age at onset of epilepsy, duration of epilepsy, epilepsy type, seizure frequency, number of medications, time from last crisis, vaccination schemes, and seizures two weeks after vaccination.

Analysis of macular carotenoids in the developing macaque retina: The timeline of macular pigment development.

In the mature retina, the components of the macular pigment, lutein (L), R,R-zeaxanthin (RRZ), R,S-zeaxanthin (RSZ, meso-zeaxanthin) are most concentrated in the central macula. L and RRZ are of dietary origin but RSZ is produced in situ from L. The relative proportions of L and Z isomers vary across the retina with eccentricity in the adult retina.

Varied Presentations of Pediatric Patients With Positive Cannabinoid Tests.

Background: Cannabis (marijuana) is one of the most abused drugs worldwide. The increasing availability of cannabis has been associated with increased emergency department (ED) visits. There is a wide range of presentations documented in the recent literature, and the full scope of symptoms in young children is not fully known.

Study of radioactive contamination in silts and aerosols at Aldama City, Mexico, due to the operation of a yellow-cake processing plant.

The city of Aldama, Chihuahua, Mexico is located 30 km NNE of Chihuahua city. Three high-volume collectors with PM10 heads were placed in specific locations in Aldama during the year 2011 to measure radioisotope concentrations in the air. The city area of 16 km² was divided into 64 squares of 500 × 500 m.

[Analysis of the rational use of anti-hypertensives in the Murcia (Spain) region].

Objective: The objective of this study was to determine the pattern of use of antihypertensive drugs in the Murcia Region, comparing the results with the national data, and detecting problems in order to make improvements, or establish hypotheses and to plan new studies.

Design: Pharmacoepidemiological study (from 2004 to 2008) in accordance with the recommendations from World Heath Organization.

Setting: : Murcia Region.

Airway pressure alters wavelet fractal dynamics and short-range dependence of respiratory variability.

We sought to quantify the autocorrelation properties and fractal dynamics of interbreath interval (IBI) variability to see if short-term airway pressure (Paw) increases affected scaling behaviour. Data were collected in anaesthetised children at basal (Ba), medium (Me) and high (Hi) Paw. Consistent with short-range dependence, the autocorrelation function was significant at five (Ba) to three (Hi) lags but lost its significance at Me.

Incidence and risk factors for the development of lung tumors after liver transplantation.

Tobacco and immunosuppression are risk factors for developing upper aerodigestive and lung tumors after transplantation. This study comprises 701 adult recipients who survived more than 2 months after transplant: 276 patients underwent orthotopic liver transplantation (OLT) for alcoholic cirrhosis (AC) and 425 for nonalcoholic disease. The aim is to analyze the incidence, clinical characteristics, risk factors, and outcome of patients who develop lung malignancies after OLT.

Advanced donor age increases the risk of severe recurrent hepatitis C after liver transplantation.

The association between donor age and the severity of recurrent hepatitis C and, whether there is any donor age above which severity of recurrence increases significantly, were analyzed. A total of 131 liver grafts of hepatitis C virus (HCV)-infected recipients were selected for the study. Distribution of donor age was compared between grafts with and without severe recurrence.

Cardiovascular risk factors in 116 patients 5 years or more after liver transplantation.

We assessed the cardiovascular risk factors (CVRFs) in 116 stable liver transplant patients surviving for 5 years or more (median: 102 months). The prevalence of smokers was 29.3%, hypertension 49.

[Comparison of the sensitivity and specificity of the electrocardiography criteria for left ventricular hypertrophy according to the methods of Romhilt-Estes, Sokolow-Lyon, Cornell and Rodríguez Padial].

Introduction And Objectives: Because left ventricular mass is associated with an increase in the risk of morbidity and mortality of cardiovascular diseases in the general population having the electrocardiogram as an accessible and inexpensive method for the diagnosis of left ventricular hypertrophy, we decided to calculate the sensitivity and specificity of 5 electrocardiographic criteria for the diagnosis of left ventricular hypertrophy and to compare the results of the original authors to ours.

Patients And Methods: 135 patients were evaluated; 46 patients were excluded by the following criteria: chronic obstructive pulmonary disease, complete left or right bundle branch block, cardiovascular ischemic disease or Wolf-Parkinson-White Syndrome. 89 patients remained and had an electrocardiogram performed applying the following criteria: Romhilt-Estes Point-Score system.

Influence of somatostatin in the evolution of acute pancreatitis. A prospective randomized study.

A prospective, controlled, and randomized clinical study was carried out with the purpose of evaluating the influence of somatostatin in the evolution of acute pancreatitis. One hundred patients were randomly divided into two groups, a control group (n = 50 patients) and a somatostatin group (n = 50 patients to whom a dosage of 250 micrograms/h was administered for 48 h following a bolus of 250 micrograms at the beginning of therapy). The two groups were homogeneous in age, sex, etiology, and severity of clinical picture (on admission).