Physical Activity and Obesity Risk in Adults in Colombia: The Prospective Urban Rural Epidemiology (PURE) Study.

PURPOSE: To investigate longitudinal associations between physical activity levels and obesity in adults in Colombia, where participation in large amounts of light-intensity physical activity is a necessity for many people. METHODS: Participation in moderate- and vigorous-intensity physical activity was assessed from 2005 to 2009 and obesity was assessed from 2011 to 2019 in men and women from the Prospective Urban Rural Epidemiology (PURE) study. Total physical activity level was categorized as low (<600 MET-min/week), medium (600-3,000 MET-min/week), or high (>3,000 MET-min/week) (600 MET-min/week is equivalent to 150 minutes of moderate activity or 75 minutes of vigorous activity per week). Obesity was defined as body mass index ≥30 kg/m2. Analyses were adjusted for age, sex, smoking, socioeconomic status, diet, alcohol, sedentary time, and sleep. RESULTS: The main analysis included 3,086 men and women aged 51 ± 9 years at baseline (mean ± SD). Compared to the low physical activity group, the odds ratio (95% confidence interval) for obesity was 0.67 (0.53, 0.85) in the medium physical activity group, and 0.78 (0.62, 0.98) in the high physical activity group after adjustment for potential confounders. Smoking is probably a major confounder and it is noteworthy that similar associations were observed in participants who reported never smoking. CONCLUSIONS: The PURE study is the only prospective cohort study in Colombia. The present analysis is important because it suggests that even the busy people of Colombia could substantially reduce their risk of obesity by participating in moderate- and vigorous-intensity physical activity.

Principales patologías diagnosticadas por el servicio de Neurología en urgencias e internación en un hospital universitario en Colombia 2020 - 2021 / Main pathologies diagnosed by the Neurology service in emergencies and hospitalization in a university hospital in Colombia 2020 - 2021

RESUMEN INTRODUCCIÓN: Las enfermedades neurológicas constituyen gran parte de las urgencias médicas (10 %-15%). Por ende, se hace necesario el reconocimiento de la distribución de las principales condiciones tanto en urgencias como en hospitalización. Se decidió caracterizar la distribución real de la enfermedad neurológica atendida en un hospital universitario de tercer nivel en Boyacá. MATERIALES Y MÉTODOS: Estudio descriptivo de corte transversal. RESULTADOS: 1203 pacientes con edad promedio de 56,2 (± 21,2) años, la mayoría de sexo masculino, casi la mitad de ellos nivel de educación básica primaria. De un total de 81 diagnósticos, se caracterizaron clínica y sociodemográficamente los 12 primeros, encontrando que en el área de urgencias prevalece la enfermedad cerebrovascular, epilepsia, cefalea, polineuropatia y vértigo. CONCLUSIONES. Los principales motivos de interconsulta del servicio son la enfermedad cerebrovascular y el delirio en urgencias e internación respectivamente, siendo generadas principalmente por medicina general, medicina interna y unidad de cuidado intensivo.

ABSTRACT INTRODUCTION: Neurological diseases constitute a large proportion of medical emergencies (10%-15%). Knowledge of the distribution of the main neurological conditions both in the emergency room and in hospitalization is necessary. The real distribution of neurological disease treated in a tertiary university hospital in Boyacá can be characterized. METHODOLOGY: Descriptive cross-sectional study. Results: 1203 patients with a mean age of 56.2 (± 21.2) years, most of them male, almost half of them with basic primary education. From a total of 81 diagnoses, the first 12 were characterized clinically and socio demographically, we found that in the emergency department, cerebrovascular disease, epilepsy, headache, polyneuropathy and vertigo prevailed. CONCLUSIONS. The main reasons for consultation were cerebrovascular disease and delirium in the emergency department and hospitalization, respectively, being mainly generated by internal medicine and the intensive care unit.

Optic neuromyelitis in relation with juvenile idiopathic arthritis: A case report

Optic neuromyelitis (ONM), also called neuromyelitis optica spectrum (Neuromyelitis Optica Spectrum Disorders, NMOSD) is recognized as an inflammatory autoimmune demyelinating disease of the central nervous system, mediated by autoantibodies against the aquaporin-4 receptor (AQP4-IgG). It predominantly affects the optic nerves and the spinal cord.1-3 It is known that patients with immune disorders are more likely to present other autoimmune diseases, but the relation between juvenile idiopathic arthritis and ONM has not been completely described.5 In this paper, we report a case of a patient with juvenile idiopathic arthritis, presenting with a rapidly progressive neurological condition, who is treated with biological drugs.1-4

La neuromielitis óptica (NMO), también llamada espectro de la neuromielitis óptica (neuromyelitis optica spectrum disorders) se reconoce como una enfermedad inflamatoria, autoinmune, desmielinizante del sistema nervioso central, mediada por autoanticuerpos contra el receptor de acuaporina 4 (AQP4-IgG) que afecta predominantemente a los nervios ópticos y la médula espinal1-3. Es conocido que los pacientes con trastornos inmunitarios tienen más probabilidades de presentar otras enfermedades autoinmunes; sin embargo, no está completamente descrita la asociación entre artritis idiopática juvenil y NMO5. En este escrito se reporta el caso de una paciente que cursa con artritis idiopática juvenil, inició con compromiso neurológico rápidamente progresivo, y es tratada con medicamentos biológicos1-4.

Bullying a personas con trastornos de la comunicación integradas en establecimientos escolares: rol de la fonoaudiología y sus implicancias en la salud comunicativa / Bullying of people with communication disorders integrated in schools: role of speech therapy and its implications for communicative health

El bullying es un fenómeno definido como una forma de agresión intencional que incluye actos verbales, físicos o psicológicos que ocurren en una relación con otras personas de manera reiterada, sistemática y sostenida en el tiempo. La mayor parte de los estudios se concentran en el bullying y las consecuencias en población escolar normotípica, sin embargo, existe poca exploración en el bullying que es resultado de un trastorno comunicativo. Es por ello que la labor de los fonoaudiólogos insertos en ámbitos educativos no es clara en explicitar los lineamientos de acciones terapéuticas que favorezcan la prevención de este fenómeno. El propósito de esta investigación es conocer las principales concepciones que los fonoaudiólogos tienen sobre el bullying en personas con trastornos de la comunicación en edad escolar. Con este objetivo, se realizó una investigación con métodos cuantitativos y cualitativos, mediados por encuestas y entrevistas en profundidad respectivamente. Se encontró que más del 65% del bullying entre personas dentro de los establecimientos educacionales se relaciona con niños de entre 9 y 12 años de edad con trastornos de la comunicación. En cuanto a la autopercepción del rol fonoaudiológico en el tema de la prevención e/o intervención en temas de bullying, emergen los conceptos de favorecer los aspectos del lenguaje y/o del habla en los niños que tienen dificultad, la sensibilización de los actores involucrados, el refuerzo del autoestima y el trabajo en equipo interdisciplinario. Finalizando el tratamiento analítico de las entrevistas, se establece que la Fonoaudiología cumpliría un papel fundamental en el abordaje del bullying en poblaciones con trastornos de la comunicación, siendo el profesional que actúa directamente sobre la salud comunicativa.

Bullying is a phenomenon defined as a form of intentional aggression that includes verbal, physical or psychological acts that occur in a relationship with other people in a repeated, systematic and sustained manner over time. Most of the studies focus on bullying and its consequences in the normal school population, however, there is little exploration of bullying that is the result of a communication disorder. This is why the work of speech therapists inserted in educational settings is not clear in explaining the guidelines for therapeutic actions that favor the prevention of this phenomenon. The purpose of this research is to know the main conceptions that speech-language pathologists have about bullying in people with communication disorders at school age. With this objective, an investigation was carried out with quantitative and qualitative methods, mediated by surveys and in-depth interviews, respectively. It was found that more than 65% of bullying between people within educational establishments is related to children between 9 and 12 years of age with communication disorders. Regarding the self-perception of the speech-language pathology role in the issue of prevention and/or intervention in bullying issues, the concepts of favoring aspects of language and/or speech in children who have difficulty emerge, raising awareness of the actors involved, the reinforcement of self-esteem and interdisciplinary teamwork. Completing the analytical treatment of the interviews, it is established that speech therapy would play a fundamental role in addressing bullying in populations with communication disorders, being the professional who acts directly on communicative health.

Broad variation in phenotypes for common GAA genotypes in Pompe disease.

Patients with the common c.-32-13T > G/null GAA genotype have a broad variation in age at symptom onset, ranging from early childhood to late adulthood. Phenotypic variation for other common GAA genotypes remains largely unexplored. Here, we analyzed variation in age at symptom onset for the most common GAA genotypes using the updated and extended Pompe GAA variant database. Patients with the c.2647-7G > A/null genotype invariably presented symptoms at adulthood, while the c.-32-13T > G/null, c.546G > T/null, c.1076-22T > G/null, c.2238G > C/null, and c.2173C > T/null genotypes led to presentations from early childhood up to late adulthood. The c.1309C > T/null genotype was associated with onset at early to late childhood. Symptom onset shifted toward higher ages in homozygous patients. These findings indicate that a broad variation in symptom onset occurs for various common GAA genotypes, suggesting the presence of modifying factors. We identified three new compound heterozygous c.-32-13T > G/null patients who carried the genetic modifier c.510C > T and who showed symptom onset at childhood. While c.510C > T acted by lowering GAA enzyme activity, other putative genetic modifiers did not at the group level, suggesting that these act in trans on processes downstream of GAA enzyme activity.

Recomendaciones bioéticas para la pandemia. Una perspectiva personalista / Bioethical recommendations for the pandemic. a personalistic perspective / Recomendações bioéticas para a pandemia. uma perspectiva personalista

Resumen La emergencia sanitaria por la pandemia del covid-19 puso en evidencia limitaciones en los sistemas de salud a nivel mundial, lo que hizo necesario un marco bioético que brinde herramientas para orientar la toma de decisiones de los profesionales de la salud ante la escasez de recursos sanitarios. Modelos bioéticos como el principialismo, el utilitarismo y la bioética centrada en la persona buscan enfocar las decisiones clínicas con base en el respeto de los derechos y la dignidad de las personas, a fin de salvaguardar la práctica médica. La bioética centrada en la persona brinda un enfoque dirigido hacia el respeto de su dignidad en situaciones de urgencia sanitaria, para evitar dar un sentido material al hombre. Se requieren criterios de decisión para afrontar los conflictos bioéticos presentes en la práctica clínica, que reduzcan la carga legal, emocional y ética de la toma de decisiones en situaciones de pandemia.

Abstract The health emergency due to the COVID-19 pandemic revealed limitations in health systems worldwide, making it necessary to establish a bioethical framework that provides tools to drive health professionals' decision-making amid scarce health resources. Bioethical models such as principlism, utilitarianism, and personalism seek to focus clinical decisions on respect for people's rights and dignity, thus protecting the medical practice. Personalism provides a person-centered approach to respect for human dignity during health emergencies to avoid giving material meaning to the individual. Decision criteria are required to face bioethical conflicts in clinical practice, reducing the legal, emotional, and ethical burden of decision-making in pandemic situations.

Resumo A emergência sanitária devido à pandemia ocasionada pela covid-19 colocou em evidência limitações nos sistemas de saúde de todo o mundo. Isso levou à necessidade de um referencial bioético que ofereça ferramentas para orientar a tomada de decisões dos profissionais da saúde ante a escassez de recursos sanitários. Modelos bioéticos como o principialismo, o utilitarismo e a bioética centralizada na pessoa procuram enfocar as decisões clínicas com base no respeito dos direitos humanos e da dignidade das pessoas, preservando a prática médica. A bioética centralizada na pessoa oferece uma abordagem dirigida ao respeito a sua dignidade em situações de emergência sanitária, para evitar dar um sentido material ao homem. São exigidos critérios de decisão para enfrentar os conflitos bioéticos presentes na prática clínica que reduzam a carga legal, emocional e ética da tomada de decisões em contextos de pandemia.

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Pompe disease is an inherited disorder caused by disease-associated variants in the acid α-glucosidase gene (GAA). The Pompe disease GAA variant database (http://www.pompevariantdatabase.nl) is a curated, open-source, disease-specific database, and lists disease-associated GAA variants, in silico predictions, and clinical phenotypes reported until 2016. Here, we provide an update to include 226 disease-associated variants that were published until 2020. We also listed 148 common GAA sequence variants that do not cause Pompe disease. GAA variants with unknown severity that were identified only in newborn screening programs were listed as a new feature to indicate the reason why phenotypes were still unknown. Expression studies were performed for common missense variants to predict their severity. The updated Pompe disease GAA variant database now includes 648 disease-associated variants, 26 variants from newborn screening, and 237 variants with unknown severity. Regular updates of the Pompe disease GAA variant database will be required to improve genetic counseling and the study of genotype-phenotype relationships.

Enzymatic diagnosis of Pompe disease: lessons from 28 years of experience.

Pompe disease is a lysosomal and neuromuscular disorder caused by deficiency of acid alpha-glucosidase (GAA), and causes classic infantile, childhood onset, or adulthood onset phenotypes. The biochemical diagnosis is based on GAA activity assays in dried blood spots, leukocytes, or fibroblasts. Diagnosis can be complicated by the existence of pseudodeficiencies, i.e., GAA variants that lower GAA activity but do not cause Pompe disease. A large-scale comparison between these assays for patient samples, including exceptions and borderline cases, along with clinical diagnoses has not been reported so far. Here we analyzed GAA activity in a total of 1709 diagnostic cases over the past 28 years using a total of 2591 analyses and we confirmed the clinical diagnosis in 174 patients. We compared the following assays: leukocytes using glycogen or 4MUG as substrate, fibroblasts using 4MUG as substrate, and dried blood spots using 4MUG as substrate. In 794 individuals, two or more assays were performed. We found that phenotypes could only be distinguished using fibroblasts with 4MUG as substrate. Pseudodeficiencies caused by the GAA2 allele could be ruled out using 4MUG rather than glycogen as substrate in leukocytes or fibroblasts. The Asian pseudodeficiency could only be ruled out in fibroblasts using 4MUG as substrate. We conclude that fibroblasts using 4MUG as substrate provides the most reliable assay for biochemical diagnosis and can serve to validate results from leukocytes or dried blood spots.

Extension of the Pompe mutation database by linking disease-associated variants to clinical severity.

Pompe disease is an autosomal recessive lysosomal storage disorder caused by disease-associated variants in the acid alpha-glucosidase (GAA) gene. The current Pompe mutation database provides a severity rating of GAA variants based on in silico predictions and expression studies. Here, we extended the database with clinical information of reported phenotypes. We added additional in silico predictions for effects on splicing and protein function and for cross reactive immunologic material (CRIM) status, minor allele frequencies, and molecular analyses. We analyzed 867 patients and 562 GAA variants. Based on their combination with a GAA null allele (i.e., complete deficiency of GAA enzyme activity), 49% of the 422 disease-associated variants could be linked to classic infantile, childhood, or adult phenotypes. Predictions and immunoblot analyses identified 131 CRIM negative and 216 CRIM positive variants. While disease-associated missense variants were found throughout the GAA protein, they were enriched up to seven-fold in the catalytic site. Fifteen percent of disease-associated missense variants were predicted to affect splicing. This should be confirmed using splicing assays. Inclusion of clinical severity rating in the Pompe mutation database provides an invaluable tool for diagnosis, prognosis of disease progression, treatment regimens, and the future development of personalized medicine for Pompe disease.

Larval fish feeding ecology, growth and mortality from two basins with contrasting environmental conditions of an inner sea of northern Patagonia, Chile.

During austral spring 2011, a survey was carried out in the inland sea (41°30'-44°S) of north Patagonia, South Pacific, studying a northern basin (NB: Reloncaví Fjord, Reloncaví Sound and Ancud Gulf) characterized by estuarine regime with stronger vertical stratification and warmer (11-14 °C) and most productive waters, and a southern basin (SB: Corcovado Gulf and Guafo mouth), with more oceanic water influence, showed mixed conditions of the water column, colder (11-10.5 °C) and less productive waters. Otolith microstructure and gut content analysis of larval lightfish Maurolicus parvipinnis and rockfish Sebastes oculatus were studied. Larval M. parvipinnis showed similar growth rates in both regions (0.13-0.15 mm d(-1)), but in NB larvae were larger-at-age than in SB. Larval S. oculatus showed no differences in size-at-age and larval growth (0.16 and 0.11 mm d(-1) for NB and SB, respectively). M. parvipinnis larvae from NB had larger number of prey items (mostly invertebrate eggs), similar total volume in their guts and smaller prey size than larvae collected in SB (mainly calanoid copepods). Larval S. oculatus had similar number, volume and body width of prey ingested at both basins, although prey ingestion rate by size was 5 times larger in NB than in SB, and prey composition varied from nauplii in NB to copepodites in SB. This study provides evidence that physical-biological interactions during larval stages of marine fishes from Chilean Patagonia are species-specific, and that in some cases large size-at-age correspond to increasing foraging success.

Caracterización de los determinantes sociales de la salud y los componentes de la discapacidad en la ciudad de Manizales, Colombia / Characterization of the social determinants of health and of the components of disability in Manizales, Colombia

El objetivo de este trabajo fue establecer la relación existente entre los determinantes sociales de la salud y los componentes de la discapacidad. Corresponde a un estudio de tipo descriptivo con fase correlacional, se analizaron 6.150 registros de personas identificadas en el Registro de Localización y Caracterización de las Personas con Discapacidad en la ciudad de Manizales. En los resultados se observaron 3.181 registros de mujeres y 2.969 de hombres; edad promedio: hombres, 40.5 años, y mujeres, 48.9 años. Se destaca la presencia de las alteraciones en el movimiento de cuerpo, manos, brazos y piernas, con 44.7%. Las principales barreras son las arquitectónicas, se presenta mayor participación social en actividades religiosas y familiares y menor participación en actividades culturales. Las deficiencias y alteraciones permanentes son más frecuentes en la adultez media, la vejez y la infancia, igualmente, se encontró relación de la edad y el grupo étnico con la restricción en la participación, p<0,05. Como conclusión se observa que los bajos niveles educativos producto de la restricción en la participación obstaculizan la capacidad de adquirir conocimientos y habilidades que permitirían acceso a un mercado laboral más amplio y a mejores condiciones de vida.

The objective of this work is to establish the relationship between the social determinants of health and the components of disability. Methods and Tools: descriptive study with phase correlation. 6.150 records corresponding to the totality of the population indexed in the Public Record of Location and Characterization of People with Disability, provided by the local Health Department of Manizales, were analyzed. Results: 3.181 of the total records were women and 2.969 were men; the average age was 40.5 years for men and 48.9 years for women. The study showed that the most significant alterations were: Alterations in body movement, hands, arms and legs (44.7%); the main barriers are architectural ones; greater involvement in religious and family activities was found; involvement in cultural activities was scarce. The study revealed that permanent impairments are more common in middle adulthood, old age and childhood; the study also showed a relationship between age and ethnicity with participation restriction, p<0,05. Conclusions: Low educational levels, resulting from a restriction in participation, hinder the capability to acquire knowledge and skills which would otherwise allow access to a broader labour market and to better living conditions.

Identification and Functional Characterization of GAA Mutations in Colombian Patients Affected by Pompe Disease.

Pompe disease (PD) is a recessive metabolic disorder characterized by acid α-glucosidase (GAA) deficiency, which results in lysosomal accumulation of glycogen in all tissues, especially in skeletal muscles. PD clinical course is mainly determined by the nature of the GAA mutations. Although ~400 distinct GAA sequence variations have been described, the genotype-phenotype correlation is not always evident.In this study, we describe the first clinical and genetic analysis of Colombian PD patients performed in 11 affected individuals. GAA open reading frame sequencing revealed eight distinct mutations related to PD etiology including two novel missense mutations, c.1106 T > C (p.Leu369Pro) and c.2236 T > C (p.Trp746Arg). In vitro functional studies showed that the structural changes conferred by both mutations did not inhibit the synthesis of the 110 kD GAA precursor form but affected the processing and intracellular transport of GAA. In addition, analysis of previously described variants located at this position (p.Trp746Gly, p.Trp746Cys, p.Trp746Ser, p.Trp746X) revealed new insights in the molecular basis of PD. Notably, we found that p.Trp746Cys mutation, which was previously described as a polymorphism as well as a causal mutation, displayed a mild deleterious effect. Interestingly and by chance, our study argues in favor of a remarkable Afro-American and European ancestry of the Colombian population. Taken together, our report provides valuable information on the PD genotype-phenotype correlation, which is expected to facilitate and improve genetic counseling of affected individuals and their families.

Abordaje de la discapacidad en facultades de Psicología de universidades privadas de Bogotá, entre 1998 y 2009 / Addressing of Dissability in Psychology Faculties of Private Universities in Bogotá During the Years 1998-2009

El objetivo de esta investigación fue conocer el estado del arte sobre el abordaje de la discapacidad en los trabajos de grado para optar al título de psicólogo en universidades privadas de Bogotá. Se utilizó el método de investigación documental Resumenes analíticos de Investigación, -RAEs- de bases de datos elaborados entre los años 1998 a 2009. Se seleccionaron aquellos que abordaban la discapacidad, discapacidad física, la discapacidad cognitiva, la discapacidad sensorial y la inclusión social. Se rechazaron aquellos que abordaban la discapacidad desde una perspectiva de rehabilitación (traumas cráneo encefálicos y adicciones), la inclusión social no relacionada con la discapacidad (desplazamiento por ejemplo) y aquellos en los que el papel de la disciplina psicológica en discapacidad no fuese el núcleo central. Los resultados indican que el interés por desarrollar investigaciones sobre la discapacidad al finalizar el pregrado en facultades de Psicología es menor que en las facultades de ciencias de la Salud; que aumentaron las investigaciones tras la aprobación de las políticas públicas de discapacidad para Bogotá en el año 2004. una de las conclusiones es que urge hacer un cambio curricular en los programas de psicología para que los futuros psicólogos dominen la temática en discapacidad, psicología y políticas públicas de forma que se desarrollen adecuadas intervenciones y además se cumpla con coherencia y pertinencia lo demandado por el gobierno a nivel local y nacional.

The goal of this research was to assess the state of the art of disability in undergraduate theses submitted as a requisite for the degree of Psychologist in private universities in Bogotá. Documentary research involving the review of RAEs from databases was used; the selected period was from 1998 until 2009. Documents addressing disability, physical disability, cognitive disability, sensory disability, and social inclusion were preferred. Those documents addressing disability from a rehabilitatory standpoint (dementia, head trauma, etc.), those in which social inclusion was not related to disability (displacement, for example), and those in which Psychology, in particular disability itself did not play a preponderant role were not taken into account. The obtained results suggest much less interest in Faculties of Psychology than in Faculties of Health Sciences regarding the production of undergraduate research works addressing disability. The latter faculties increased their researches after the approval of the Public Policies for Bogotá in 2004. Bigger interest towards disability in private confessional universities was also found. One of the conclusions of this research is that it is imperative to make curricular changes in undergraduate programs in Psychology in order to give future psychologists the ability to properly deal with subjects such as disability, psychology and public policies to coherently fulfill state policies at both the local and national levels.