Management of right ventricular outflow tract with percutaneous Melody valve implantation in pediatric patients: experience in a high complexity center in Colombia.

BACKGROUND: Congenital heart disease poses a therapeutic challenge, specifically pulmonary valve stenosis. This has been treated for many years with invasive procedures and bioprostheses, which over time, become dysfunctional due to the accumulation of fibrous tissue and calcification. OBJECTIVE: The aim of this study is to describe the use of endovascular management in the right ventricular outflow tract, as the beginning of an ongoing effot to improve pediatric outcomes in developing countries. METHODS: Seven pediatric patients with endovascular management of the right outflow tract are presented. Three of them underwent surgical valvuloplasty with persistent pulmonary stenosis. They decided to insert a percutaneous transcatheter pulmonary valve (PPVI) with a Melody valve using the valve-in-valve technique, with 100% stenosis and no complications associated with the procedure. RESULTS: Four patients with successful percutaneous valve implantation had different congenital heart diseases. In addition, the case of a patient in whom an intentional pulmonary valve fracture was performed, an innovative procedure in pediatric endovascular management in the country, is highlighted. CONCLUSIONS: The procedure was minimally invasive, safe, and effective. The IVPP technique could be a viable option in our country for managing failed primary valve implantations or even in native tracts.

ANTECEDENTES: Las cardiopatías congénitas plantean un desafío terapéutico, específicamente la estenosis de la válvula pulmonar. Esta ha sido tratada durante muchos años con procedimientos invasivos e inserción de bioprótesis, que con el tiempo se vuelven disfuncionales y pueden reestenosarse por acumulación de tejido fibroso y calcificación. Debido a las complicaciones generadas por la injuria quirúrgica, se han descrito medidas menos invasivas para el manejo de la estenosis residual e inicial por medios endovasculares en adultos y más recientemente en población pediátrica. OBJETIVO: El objetivo de este reporte es describir la misma en el manejo endovascular del tracto de salida del ventrículo derecho, como el inicio de un trabajo continuo para la mejoría de los resultados pediátricos en países en vía de desarrollo. MÉTODOS: Se presentan siete casos pediátricos de manejo endovascular del tracto de salida derecho; tres de ellos sometidos a valvuloplastia quirúrgica con persistencia de la estenosis pulmonar, por lo cual se decidió inserción percutánea de una válvula pulmonar (IVPP) transcatéter con válvula Melody utilizando la técnica valve-in-valve, con lo que se consiguió una resolución del 100% de la estenosis y no se presentó ningún tipo de complicación asociada al procedimiento. RESULTADOS: En cuatro pacientes se logró una implantación exitosa de la válvula por vía percutánea en diferentes cardiopatías congénitas, siendo uno de ellos en tracto nativo; además, destaca el caso de un paciente en quien se realizó fractura intencional de la válvula pulmonar, procedimiento innovador en el manejo endovascular pediátrico en Colombia. CONCLUSIONES: En estos pacientes el procedimiento resultó ser poco invasivo, seguro y efectivo. La técnica IVPP podría ser considerada una opción viable en Colombia (y en otros países en desarrollo) para el manejo de implantes valvulares primarios fallidos o incluso en tractos nativos.

Manejo del tracto de salida del ventrículo derecho con implante percutáneo de válvula Melody en pacientes pediátricos: experiencia en un centro de alta complejidad en Colombia / Management of right ventricular outflow tract with percutaneous Melody valve implantation in pediatric patients: experience in a high complexity center in Colombia

Resumen Antecedentes: Las cardiopatías congénitas plantean un desafío terapéutico, específicamente la estenosis de la válvula pulmonar. Esta ha sido tratada durante muchos años con procedimientos invasivos e inserción de bioprótesis, que con el tiempo se vuelven disfuncionales y pueden reestenosarse por acumulación de tejido fibroso y calcificación. Debido a las complicaciones generadas por la injuria quirúrgica, se han descrito medidas menos invasivas para el manejo de la estenosis residual e inicial por medios endovasculares en adultos y más recientemente en población pediátrica. Objetivo: El objetivo de este reporte es describir la misma en el manejo endovascular del tracto de salida del ventrículo derecho, como el inicio de un trabajo continuo para la mejoría de los resultados pediátricos en países en vía de desarrollo. Métodos: Se presentan siete casos pediátricos de manejo endovascular del tracto de salida derecho; tres de ellos sometidos a valvuloplastia quirúrgica con persistencia de la estenosis pulmonar, por lo cual se decidió inserción percutánea de una válvula pulmonar (IVPP) transcatéter con válvula Melody utilizando la técnica valve-in-valve, con lo que se consiguió una resolución del 100% de la estenosis y no se presentó ningún tipo de complicación asociada al procedimiento. Resultados: En cuatro pacientes se logró una implantación exitosa de la válvula por vía percutánea en diferentes cardiopatías congénitas, siendo uno de ellos en tracto nativo; además, destaca el caso de un paciente en quien se realizó fractura intencional de la válvula pulmonar, procedimiento innovador en el manejo endovascular pediátrico en Colombia. Conclusiones: En estos pacientes el procedimiento resultó ser poco invasivo, seguro y efectivo. La técnica IVPP podría ser considerada una opción viable en Colombia (y en otros países en desarrollo) para el manejo de implantes valvulares primarios fallidos o incluso en tractos nativos.

Abstract Background: Congenital heart disease poses a therapeutic challenge, specifically pulmonary valve stenosis. This has been treated for many years with invasive procedures and bioprostheses, which over time, become dysfunctional due to the accumulation of fibrous tissue and calcification. Objective: The aim of this study is to describe the use of endovascular management in the right ventricular outflow tract, as the beginning of an ongoing effot to improve pediatric outcomes in developing countries. Methods: Seven pediatric patients with endovascular management of the right outflow tract are presented. Three of them underwent surgical valvuloplasty with persistent pulmonary stenosis. They decided to insert a percutaneous transcatheter pulmonary valve (PPVI) with a Melody valve using the valve-in-valve technique, with 100% stenosis and no complications associated with the procedure. Results: Four patients with successful percutaneous valve implantation had different congenital heart diseases. In addition, the case of a patient in whom an intentional pulmonary valve fracture was performed, an innovative procedure in pediatric endovascular management in the country, is highlighted. Conclusions: The procedure was minimally invasive, safe, and effective. The IVPP technique could be a viable option in our country for managing failed primary valve implantations or even in native tracts.

Early Depressive Symptoms Predict Faster Dementia Progression in Autosomal-Dominant Alzheimer's Disease.

BACKGROUND: Depression is associated with Alzheimer's disease (AD). OBJECTIVE: To evaluate the association between depressive symptoms and age of onset of cognitive decline in autosomal dominant AD, and to determine possible factors associated to early depressive symptoms in this population. METHODS: We conducted a retrospective study to identify depressive symptoms among 190 presenilin 1 (PSEN1) E280A mutation carriers, subjected to comprehensive clinical evaluations in up to a 20-year longitudinal follow-up. We controlled for the following potential confounders: APOE, sex, hypothyroidism, education, marital status, residence, tobacco, alcohol, and drug abuse. RESULTS: PSEN1 E280A carriers with depressive symptoms before mild cognitive impairment (MCI) develop dementia faster than E280A carriers without depressive symptoms (Hazard Ratio, HR = 1.95; 95% CI, 1.15-3.31). Not having a stable partner accelerated the onset of MCI (HR = 1.60; 95 % CI, 1.03-2.47) and dementia (HR = 1.68; 95 % CI, 1.09-2.60). E280A carriers with controlled hypothyroidism had later age of onset of depressive symptoms (HR = 0.48; 95 % CI, 0.25-0.92), dementia (HR = 0.43; 95 % CI, 0.21-0.84), and death (HR = 0.35; 95 % CI, 0.13-0.95). APOEɛ2 significantly affected AD progression in all stages. APOE polymorphisms were not associate to depressive symptoms. Women had a higher frequency and developed earlier depressive symptoms than men throughout the illness (HR = 1.63; 95 % CI, 1.14-2.32). CONCLUSION: Depressive symptoms accelerated progress and faster cognitive decline of autosomal dominant AD. Not having a stable partner and factors associated with early depressive symptoms (e.g., in females and individuals with untreated hypothyroidism), could impact prognosis, burden, and costs.

Intramural course of an anomalous left coronary artery is not always associated with a slit-like ostium.

Anomalous aortic origin of the left coronary artery from an incorrect aortic sinus has been reported as the second most common causes of sudden cardiac arrest in young athletes. Intramural course of the proximal left coronary artery is considered a high-risk morphology. It is associated with a slit-like ostium and elliptical shape of the proximal artery. In this case, all pre-operative cardiac images demonstrated a round ostium and round luminal shape of the left coronary artery, which suggested no evidence of intramural course. On intraoperative inspection, although the ostium and proximal left coronary artery appeared round, the patient had a long intramural course of the left coronary artery which our surgeons performed a successful unroofing procedure. The post-operative images showed a patent new ostium from the correct aortic sinus. These findings are very unusual and proved that we should not exclude intramural course even in the absence of a slit-like ostium and elliptical shape of the proximal left coronary artery.

Actitudes de los docentes de secundaria frente a la educación sexual de los adolescentes / Attitudes of secondary school teachers towards sex education of adolescents / Atitudes dos professores de ensino médio frente à educação sexual dos adolescentes

Resumen La educación sexual (ES) desde la escolaridad ha sido un tema de intereses con diversas variaciones ante posturas biologicistas, moralistas, preventivas, además de aquellas con un eje integrador y de derechos. La actitud de los educadores frente a la sexualidad representa un componente que puede influir en la enseñanza de la ES, por lo cual se planteó como objetivo: describir la evidencia científica respecto a las actitudes relacionadas con la educación sexual (ES) en docentes de instituciones educativas de secundaria. Materiales y métodos: se realizó una revisión sistemática exploratoria de la literatura científica publicada en el mundo, utilizando las palabras clave school teacher, sex education y attitude; en los idiomas inglés, portugués y español; de los años 2003 a 2019, mediante búsqueda en las bases de datos SciELO, Scopus, Cinhal, Ovid y BVSL y en artículos de referencias. Fueron evaluadas por dos autores de manera independiente empleando herramientas de Joanna Briggs Institute. Se estableció como medida de rigor el cumplimiento del 70 % de los criterios a evaluar. Resultados: 13 artículos superaron la valoración de rigor, ocho de tipo cualitativo y seis de cuantitativo, de Europa [1], Sudeste Asiático [3], Sudáfrica [6], Norteamérica [1], Suramérica [1] y Australia [1]. Los estudios muestran que aspectos como cultura, género, conocimiento, metodologías, valores y prejuicios del docente se constituyen en condicionantes de las actitudes del docente frente a la ES. Conclusiones: se evidencia que la clave de una mejor ES, son buenas capacitaciones docentes y el entendimiento de todos los actores de la comunidad para evitar mitos y demás.

Abstract Sex education (SE) since schooling has been a topic of interests with diverse variations before biological, moralistic and preventive positions, in addition to those with an integrative and rights axis. The attitude of educators towards sexuality represents a component that can influence the teaching of SE, reason why the objective of this research was to describe the scientific evidence regarding attitudes related to SE in teachers of secondary education institutions. Materials and Method: An exploratory systematic review of the scientific literature published in the world was carried out, using the keywords school teacher, sex education and attitudes in English, Portuguese and Spanish from 2003 to 2019, through a search in the SciELO, Scopus, Cinhal, Ovid and BVSL databases and in reference articles. They were evaluated by two authors independently using tools from the Joanna Briggs Institute. Compliance with 70% of the criteria to be evaluated was established as a measure of rigor. Results: A total of 13 articles passed the rigor assessment, eight qualitative and six quantitative, from Europe [1], Southeast Asia [3], South Africa [6], North America [1], South America [1] and Australia [1]. The studies show that aspects such as culture, gender, knowledge, methodologies, values and prejudices of the teacher constitute conditioning factors of the attitudes of teachers towards SE. Conclusions: it is evident that the key to a better SE is good teacher training and the understanding of all the actors in the community to avoid myths and others.

Resumo A educação sexual (ES) desde a escolaridade tem sido um tema de interesses com diversas variações perante posturas biologistas, moralistas, preventivas, além de aquelas com um eixo integrador e de direitos. A atitude dos professores frente à sexualidade representa um componente que pode influir no ensino da ES, pelo qual se estabeleceu como objetivo: descrever a evidencia científica respeito às atitudes relacionadas com a educação sexual (ES) em professores de instituições educativas de ensino médio. Materiais e métodos: Se fez uma revisão sistemática exploratória da literatura científica publicada no mundo, utilizando as palavras chave school teacher, sex education e attitude; nos idiomas inglês, português e espanhol; dos anos 2003 a 2019, mediante busca nas bases de dados SciELO, Scopus, Cinhal, Ovid y BVSL e em artigos de referências. Foram avaliadas por dois autores de maneira independente utilizando ferramentas de Joanna Briggs Institute. Estabeleceu-se como medida de rigor o cumprimento do 70 % dos critérios a avaliar. Resultados: 13 artigos superaram a valoração de rigor, oito de tipo qualitativo e seis de quantitativo, da Europa [1], Sudeste Asiático [3], Sul África [6], Norte América [1], Sul América [1] e Australia [1]. Os estudos amostram que aspeitos como cultura, gênero, conhecimento, metodologias, valores e prejuízos do professor se constituem em condicionantes das atitudes do professor frente à ES. Conclusões: evidencia-se que a chave de uma melhor ES, são boas capacitações aos professores e o entendimento de todos os atores da comunidade para evitar mitos e outras coisas.

Síntomas de depresión y calidad de vida relacionada con la salud en personas mayores: una revisión / Depression symptoms and health-related quality of life in older people: a review

Resumen. El objetivo de este estudio fue sintetizar la evidencia de la literatura científica sobre la calidad de vida relacionada con la salud (CVRS) en las personas mayores con síntomas de depresión. Se realizó una revisión sistemática de la literatura científica publicada entre 2015 y 2020 en las bases de datos Pubmed, Scielo y Scopus. Se incluyeron 35 artículos en los cuales se reportó una estrecha relación entre la calidad de vida relacionada con la salud y los síntomas de depresión, mediada por condiciones físicas y psicosociales entre las cuales se encuentran tener enfermedades crónicas, dolor persistente, comorbilidades, disminución de la independencia, bajos ingresos, alto porcentaje de grasa corporal, sedentarismo, vivir solo, pertenecer al género femenino y carecer de cuidadores empáticos. En conclusión, las personas mayores con presencia de síntomas depresivos reportan en general menor CVRS. Los hallazgos de este estudio son un aporte a la comprensión de la relación entre CVRS y depresión en la población adulta mayor en diferentes contextos, además, el estudio puede aportar evidencia importante para las intervenciones clínicas enfocadas en los aspectos emocionales de los pacientes con diferentes patologías.

Abstract. This study aimed to synthesize the scientific evidence on health-related quality of life in older people with symptoms of depression. This systematic review included studies published between 2015 and 2020. We used Pubmed, Scielo, and Scopus search engines. We included a total of 35 articles that addressed the relationship between health-related quality of life and symptoms of depression. Furthermore, those studies selected included the analysis of variables such as physical psychosocial and socioeconomic conditions, and comorbidities such as chronic diseases, persistent pain, decreased independence, high body fat percentage, sedentary lifestyle, living alone, belonging to the female gender, and lacking empathetic caregivers. Our findings show that older people with depressive symptoms generally report lower HRQoL. This study contributes to understanding the relationship between HRQL and depression in older persons in different contexts, in addition, the study can provide important evidence for clinical interventions focused on the emotional aspects of patients with different pathologies.

Research trends and strategies for the improvement of anaerobic digestion of food waste in psychrophilic temperatures conditions.

The organic fraction of municipal solid waste is mainly composed of food waste (FW), and traditional disposal practices for this fraction are generally considered to have negative environmental and economic impacts. However, the organic characteristics of this fraction could also be exploited through the anaerobic digestion of FW (FW-AD), which represents unique advantages, including the reduction of the area required for final disposal and environmental pollution and the same time the generation of renewable energy (mainly methane gas), and a by-product for agricultural use (digestate) due to its high nutrient content. Although approximately 88% of the world's population resides in areas with temperatures below 8 °C, psychrophilic conditions (temperatures below 20 °C) have hardly been studied, while mesophilic (66%) and thermophilic (27%) ranges were found to be more common than psychrophilic FW-AD (7%). The latter condition could decrease microbial activity and organic matter removal, which could affect biogas production and even make AD unfeasible. To improve the efficiency of the psychrophilic FW-AD process, there are strategies such as: measurement of physical properties as particle size, rheological characteristics (viscosity, consistency index and substrate behavior index), density and humidity, bioaugmentation and co-digestion with other substrates, use of inocula with psychrophilic methanogenic communities, reactor heating and modification of reactor configurations. However, these variables have hardly been studied in the context of psychrophilic conditions and future research should focus on evaluating the influence of these variables on FW-AD under psychrophilic conditions. Through a bibliometric analysis, this paper has described and analyzed the FW-AD process, with a focus on the psychrophilic conditions (<20 °C) so as to identify advances and future research trends, as well as determine strategies toward improving the anaerobic process under low temperature conditions.

Situs inversus totalis asociado a transposición de grandes arterias: un diagnóstico temprano / Situs inversus totalis associated with transposition of the great arteries: an early diagnosis

Resumen Introducción: El situs inversus totalis asociado a la transposición de grandes arterias es una condición médica rara y poco descrita. Existen pocos casos reportados con esta asociación, los cuales, en su mayoría, corresponden a pacientes adultos que presentan una transposición de grandes arterias corregida congénitamente. La complejidad del caso descrito está demarcada tanto por su etiología, como por su baja frecuencia de aparición y reto quirúrgico. Caso clínico: se describe el caso de un neonato con diagnóstico antenatal de transposición de grandes arterias, asociado a hallazgo de dextrocardia y dextrogastria que sugirió situs inversus totalis en radiografía de tórax posnatal, en quien se realizó procedimiento de Jatene de mayor complejidad a la usual por su anatomía. Conclusiones: La presencia de una asociación entre el situs inversus totalis y otra malformación anatómica, como la transposición de grandes arterias, es poco frecuente. Sin embargo, dicha asociación es un factor determinante tanto para la realización oportuna del diagnóstico, como para la elección del tratamiento apropiado y la presentación de posibles complicaciones posteriores.

Abstract Introduction: Situs inversus totalis associated with transposition of the great arteries is a rare and infrequently described medical condition. There are few reported cases of this association, most of which are in adult patients with congenitally corrected transposition of the great arteries. Objective: The complexity of the described case is marked by both its etiology as well as its infrequent presentation and surgical challenge. Clinical case: This was a newborn with a prenatal diagnosis of transposition of the great arteries associated with a finding of dextrocardia and dextrogastria which suggested situs inversus totalis on the postnatal chest x-ray, who underwent a more complex Jatene procedure than usual because of his anatomy. Conclusions: Situs inversus totalis associated with another anatomical malformation, such as transposition of the great arteries, is uncommon. However, this association is a determining factor for both timely diagnosis as well as for choosing the appropriate treatment, and for the development of possible subsequent complications.

Congenitally corrected transposition of great arteries associated with interrupted aortic arch type A: a case report of an unusual association.

In this article, we report the third case, to our knowledge, of a congenitally corrected transposition of the great arteries associated with an interrupted aortic arch. This is a more complex and rare presentation than dextro-transposition of great arteries with interrupted aortic arch. The child ultimately succumbed to sepsis before the surgical repair was possible. We focus on an image modality report and propose what could be a brief embryologic explanation for this rare case.

Recomendaciones para la rehabilitación pulmonar en pacientes con COVID-19 / Recommendations for pulmonary rehabilitation in patients with COVID-19

Introducción: La COVID-19 es una enfermedad que desencadena infecciones respiratorias graves como el síndrome respiratorio agudo severo, que puede requerir atención prolongada intra y extrahospitalaria. Objetivo: Brindar recomendaciones y pautas para una correcta evaluación y tratamiento del paciente con COVID-19 mediante la rehabilitación pulmonar. Materiales y métodos: Revisión de la literatura en las bases de datos MEDLINE, PEDRO, Scielo y en Google Scholar, a partir de las palabras clave: COVID-19, Síndrome de Dificultad Respiratoria del Adulto, Enfermedades pulmonares, Rehabilitación, pruebas de función respiratoria, Unidad de cuidado intensivo; seleccionando, aquellos artículos que presentaran información sobre rehabilitación en pacientes con COVID-19 y otras alteraciones con compromiso similar como el Síndrome Respiratorio Agudo y las Enfermedades Pulmonares Intersticiales Difusas. Resultados: Para realizar una intervención en paciente con COVID-19 u otra alteración respiratoria como Síndrome de Dificultad Respiratoria del Adulto y Enfermedad Pulmonar Intersticial Difusa, es necesario realizar un adecuado diagnóstico de la enfermedad, una minuciosa evaluación integral y una intervención basada en las necesidades de cada individuo. Conclusiones: El paciente intrahospitalario puede recibir intervención enfocada a evitar el deterioro funcional y una vez son dados de alta la rehabilitación pulmonar extrahospitalaria podría ser una alternativa eficaz en el tratamiento para los pacientes.

Introduction: COVID-19 is a disease that triggers serious respiratory infections such as severe acute respiratory syndrome, which requires treatment on an inpatient and outpatient basis. Objective: To provide recommendations and guidelines for the appropriate assessment and treatment of COVID-19 patients through pulmonary rehabilitation. Materials and methods: A literature review using MEDLINE, PEDRO, Scielo and Google Scholar databases and the keywords: COVID-19, Adult Respiratory Distress Syndrome, Pulmonary diseases, Rehabilitation, Respiratory function tests, Intensive Care Unit. Articles that described information regarding rehabilitation in COVID-19 patients and other similar dysfunctions such as Acute Respiratory Syndrome and Diffuse Interstitial Lung Diseases. Results: It is necessary to carry out an appropriate disease diagnosis, a detailed integral assessment, and an intervention based on the needs of each patient in order to intervene with either COVID-19 patients or cases with other respiratory dysfunctions such as Adult Respiratory Distress Syndrome and Diffuse Interstitial Lung Disease. Conclusions: Inpatients can be subjected to an intervention focused on avoiding functional failure. Once they are discharged, outpatient pulmonary rehabilitation could be an effective treatment alternative for these patients.

Specific Abnormalities in White Matter Pathways as Interface to Small Vessels Disease and Cognition in Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy Individuals.

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is characterized by leukoencephalopathy leading to cognitive impairment. Subtle cognitive deficits can be observed early in the course of the disease, before the occurrence of the first stroke. Therefore, markers that can predict disease progression at this early stage, when interventions are likely to alter disease course, are needed. We aimed to examine the biological cascade of microstructural and macrostructural white matter (WM) abnormalities underlying cognitive deficits in CADASIL. Methods: We examined 20 nondemented CADASIL mutation carriers and 23 noncarriers who underwent neuropsychological evaluation and magnetic resonance imaging. Using probabilistic tractography of key WM tracts, we examined group differences in diffusivity measures and WM hyperintensity volume. Successive mediation models examined whether tract-specific WM abnormalities mediated subtle cognitive differences between CADASIL mutation carriers and noncarriers. Results: The largest effect size differentiating the two groups was observed for left superior longitudinal fasciculus-temporal (SLFt) diffusivity (Cohen's f = 0.49). No group differences were observed with a global diffusion measure. These specific microstructural differences in the SLFt were associated with higher WM hyperintensities burden, and subtle executive deficits in CADASIL mutation carriers. Discussion: Worse diffusivity in the left SLFt is related to greater severity of small vessel disease and worse executive functioning in the asymptomatic stage of the disease. Worse diffusivity of the left SLFt may potentially hold promise as an indicator of disease progression. Impact statement Diffusion tensor imaging outperforms conventional imaging of subcortical small vessel disease as a potential marker of future disease progression. Here we identified the left superior longitudinal temporal fasciculus as a critical white matter fiber bundle, of which worse diffusivity can link presence of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy mutations to greater severity of small vessel disease and worse executive functioning in asymptomatic stages of the disease. This tract may hold promise and deserves further examination as an early indicator of disease progression.

Global Cardiovascular Risk Profile and Cerebrovascular Abnormalities in Presymptomatic Individuals with CADASIL or Autosomal Dominant Alzheimer's Disease.

BACKGROUND: Cardiovascular risk factors increase the risk of developing dementia, including Alzheimer's disease and vascular dementia. OBJECTIVE: Studying individuals with autosomal dominant mutations leading to the early onset of dementia, this study examines the effect of the global cardiovascular risk profile on early cognitive and neuroimaging features of Alzheimer's disease and vascular dementia. METHODS: We studied 85 non-demented and stroke-free individuals, including 20 subjects with Presenilin1 (PSEN1) E280A mutation leading to the early onset of autosomal dominant Alzheimer's disease (ADAD), 20 subjects with NOTCH3 mutations leading to cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and to the early onset of vascular dementia, and 45 non-affected family members (non-carriers). All subjects underwent clinical and neuropsychological evaluations and an MRI. The global cardiovascular risk profile was estimated using the office-based Framingham Cardiovascular Risk Profile (FCRP) score. RESULTS: In individuals with CADASIL, a higher FCRP score was associated with a reduced hippocampal volume (B = -0.06, p < 0.05) and an increased severity of cerebral microbleeds (B = 0.13, p < 0.001), lacunes (B = 0.30, p < 0.001), and perivascular space enlargement in the basal ganglia (B = 0.50, p < 0.05). There was no significant association between the FCRP score and neuroimaging measures in ADAD or non-carrier subjects. While the FCRP score was related to performance in executive function in non-carrier subjects (B = 0.06, p < 0.05), it was not significantly associated with cognitive performance in individuals with CADASIL or ADAD. CONCLUSION: Our results suggest that individuals with CADASIL and other forms of vascular cognitive impairment might particularly benefit from early interventions aimed at controlling cardiovascular risks.

Congenital hyperextension deformity of the knees due to arthrogryposis multiplex congenita? case report

ABSTRACT Introduction: Arthrogryposis multiplex congenita is a disorder characterized by non-progressive joint contractures. It has an estimated prevalence of 1 in every 3 000-5 000 live births, with the same male-to-female ratio. Case presentation: This is the case of a male newborn with adequate prenatal care checkup appointments, who presented with a congenital deformity of the lower limbs. On physical examination, he had hyperextension of the knees (passive flexion of 20° in the left leg and 30° in the right leg), and painful active movement. On admission, peripheral pulses had good intensity, and adequate distal perfusion was found. Barlow and Ortolani maneuvers were negative, and no midline lesions were observed in the spine. The patient was diagnosed with arthrogryposis multiplex congenita and received multidisciplinary treatment to avoid early morbidity and mortality. Conclusion: To attain satisfactory clinical development in patients with arthrogryposis, it is essential to have a high level of antenatal suspicion, as well as appropriate prenatal checkups. All this allows for proper management, minimizing diagnostic errors, avoiding unnecessary procedures, and performing effective and timely treatment with outstanding results.

RESUMEN Introducción. La artrogriposis múltiple congénita es un desorden caracterizado por contracturas articulares no progresivas y que tiene una prevalencia estimada de 1 caso por cada 3 000-5 000 nacidos vivos con igual proporción entre géneros. Presentación del caso. Paciente masculino recién nacido con adecuados controles prenatales, quien al nacimiento presentó deformidad en miembros inferiores debido a hiperextensión de las rodillas (flexión pasiva de 20° en pierna izquierda y 30° en pierna derecha) que provocaba dolor a la movilización activa. Al ingreso se registró perfusión distal adecuada y pulsos periféricos simétricos y de buena intensidad; las maniobras de Ortolani y Barlow fueron negativas y no se evidenciaron lesiones en la línea media del dorso. El paciente fue diagnosticado con artrogriposis múltiple congénita y recibió tratamiento multidisciplinario que evitó morbi-mortalidad temprana. Conclusión. La sospecha prenatal, el examen físico exhaustivo y el diagnóstico diferencial son de vital importancia para lograr una evolución clínica satisfactoria en la artrogriposis múltiple congénita; con esto es posible hacer un manejo adecuado, minimizar los errores diagnósticos, evitar procedimientos innecesarios y realizar un tratamiento efectivo y oportuno con excelentes resultados.

Diagnóstico neonatal temprano y asintomático de una trombosis cerebral de senos venosos en contexto de displasia septo-óptica / Early diagnosis of asymptomatic cerebral sinovenous thrombosis associated with a septo-optic dysplasia in a newborn

RESUMEN La displasia septo-óptica (DSO) es una entidad que incluye hipoplasia de nervios ópticos, disgenesia de la línea media cerebral y disfunción hipotálamo-hipofisaria. Entre las teorías sobre su patogenia es de resaltar una posible disrupción vascular que altera el desarrollo de las estructuras involucradas. Dado que la (DSO) es una patología infrecuente, se presenta el caso de un recién nacido que desde sus controles prenatales presentó alteraciones anatómicas cerebrales en línea media. Posteriormente al nacimiento se confirmaron las siguientes: ausencia de septum pellucidum, dilatación ventricular supratentorial con sospecha de estenosis acueductal y disgenesia del cuerpo calloso, además de una trombosis de seno venoso. Se resalta la importancia de mostrar la relación de estas dos patologías puesto que solamente encontramos otro caso reportado en la literatura. Igualmente, se destacan herramientas del manejo de trombosis cerebral neonatal. Por último, se resalta la utilidad de los controles prenatales como guía del enfoque rápido para el diagnóstico en este paciente.

SUMMARY The septo-optic dysplasia (SOD) is characterized by a classic triad: optic nerve hypoplasia, dysgenesis of the cerebral midline and hypothalamus-pituitary axis dysfunction, in association, sometimes, with abnormalities in the cerebral cortex. In this article, we report a case of SOD diagnosed in the first days after birth of a patient, in which we incidentally documented a cerebral sinovenous thrombosis in the prenatal check-up exams. In here we try to highlight that the combination of both pathologies is less prevalent, finding in the literature just one case reported. In the other hand, to show the importance of adequate prenatal controls to guide the diagnosis and the management of Neonatal cerebral sinovenous thrombosis.

Cambios en la incidencia de diabetes mellitus tipo 1 en menores de 15 años en la ciudad de Bogotá, Colombia / Changes in the incidence of diabetes mellitus type 1 in children under the age of 15 in the city of Bogotá, Colombia

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Cutis verticis gyrata en población masculina institucionalizada con enfermedad mental crónica en colombia. Serie de casos / Cutis verticis gyrata in adult male institutionalized population in colombia. Case series

El artículo describe casos de cutis verticis gyrata (CVG) encontrados institución de protección en Sibaté, Colombia. Se trata de una serie de casos de 65 hombres adultos; se describen las variables sociodemográficas y clínicas. Se encuentra en la institución una prevalencia de 5,9%, mucho más alta que lo esperada en la población general (1:100.000 hombres). El promedio de edad fue de 38,5 años, la mayoría analfabetas (98,46%). El diagnostic más frecuente fue de retard mental profundo en 59 casos (90,77%), con alta comorbiidad multiaxial. La presencia de surcos en cuero cabelludo tuvo un rango de 1 a 16. La edad de inicio y el tipo de CVG no pudieron ser establecidos. Se trata de la mayor serie de casos reportada en una sola institución. Existe necesidad de estudios posteriores para determinar el tipo, origen y evolución del hallazgo.

To describe Cutis Verticis gyrate (CVG) in cases found in an institutionalized people facility in Colombia. Case series with 65 male adult in-patients, describing socio-demographic and clinical variables. Prevalence of 5.9 % was higher than expected in the general population (1:100.000 in males). Mean age: 38.5 years, most illiterate (98.46%). The most frequent diagnosis was profound mental retardation in 59 (90.77 %) cases, with high multi-axis comorbidity. Folds range from 1 to 16. Age of onset and type of CVG couldn't be established. This is the largest case series reported from a single institution. There is need of further study to determine type, origin, and evolution of the sign.

Seguridad de la diálisis peritoneal automatizada-DPA en niños por cuidadores primarios en casa / Safety automated peritoneal dialysis-DPA in children by primary caregivers home

Introducción. La Insuficiencia Renal Crónica en pediatría es considerada como enfermedad de alto costo, generando gran impacto emocional, familiar y social en el niño y el cuidador primario. La mayoría de los procesos de atención en este grupo de pacientes son complejos, requiriendo terapias de remplazo renal. Objetivo. Evaluar la Seguridad de la DPA a niños en casa, a través del entrenamiento a cuidadores primarios por enfermería. Material y Métodos. Estudio descriptivo transversal, utilizando muestreo por conveniencia, incluyó 12 cuidadores primarios de niños en DPA de zona urbana y rural del departamento del Valle del Cauca pertenecientes a una Unidad Renal de Cali-Colombia, se evaluó por medio de visita domiciliaria: perfil socio demográfico, condiciones ambientales, adherencia al tratamiento y factores de riesgo en dos periodos de tiempo. Resultados. Se evaluaron 12 niños entre 5 a 18 años, el 60% con 10 a 15 años; en condiciones ambientales el 83% habitaban en casas terminadas, 17% en construcción; 50% pertenecen al estrato socioeconómico 2. En relación al nivel educativo del cuidador, el 58% cursó primaria, 58.3% tenía como cuidador a la madre, 8.3% padre y 25% el mismo paciente. Discusión. Los niños con DPA son vulnerables a múltiples factores de riesgo, siendo necesario estrategias para su evaluación. El equipo interdisciplinario y en especial profesional de enfermería direccionan lineamientos al cuidado de la DPA, convirtiéndose en una forma efectiva para minimizar riesgos desencadenantes de complicaciones y poder desarrollar destrezas que orienten la seguridad de la DPA en casa (AU)

Introduction: Chronic renal failure in children is considered high-cost disease, causing great emotional impact, family and society on the child and the primary caregiver. Most of the processes of care in this group of patients are complex, requiring renal replacement therapy. Objective: Evaluate the Safety of DPA children at home, through training for nursing primary caregivers. Material and Mhetods: Cross-sectional study using convenience sampling included 12 primary caregivers of children in DPA urban and rural area of Valle del Cauca department belonging to the Renal Unit of Cali-Colombia, was assessed through home visits: socio-demographic profile, environmental conditions, treatment adherence, and risk factors in two time periods. Results: We evaluated 12 children between 5-18 years, 60% with 10-15 years, at ambient conditions, 83% lived in houses completed, 17% in construction, 50% belonged to socioeconomic status 2. In relation to the educational level of the caregiver, 58% attended elementary, 58.3% had a caregiver to mother, father 8.3% and 25% the same patient. Conclusion: Children with APD are vulnerable to multiple risk factors, being strategies necessary for evaluation. The interdisciplinary team and especially addressed nurse care guidelines for DPA, becoming an effective way to minimize risks and complications triggers to develop skills to guide DPA security at home (AU)

Odontología en equinos: generalidades e importancia en medicina veterinaria / Equine dentistry: overview and importance in veterinary medicine / Odontologia em equinos: generalidades e importância em medicina veterinária

A través del tiempo, los equinos han evolucionado tanto anatómicamente como en sus hábitos alimenticios debido a su domesticación, por tanto, su dentición ha cambiado pero es la huella que permite conocer su edad. En la práctica de clínica veterinaria es necesario conocer la estructura y fisiología de la cavidad oral, y la manera como se manifiesta la presencia de alteraciones de orden dental que afectan a los equinos, y de qué forma se debe realizar un correcto examen clínico de dicha cavidad, facilitando el uso de tratamientos preventivos y, en el caso de que exista una afección, llegar a un diagnóstico acertado y posteriormente establecer el tratamiento adecuado. Es importante tener en cuenta que la odontología veterinaria se ha descuidado por parte de los profesionales dejando que sea invadida por empíricos u odontólogos humanos.

Over time, horses have evolved both anatomically and in their eating habits as a result of domestication. Their dentition has thus changed, but it is still the imprint information that makes it possible to determine their age. In clinical veterinary practice it is necessary to know the structure and physiology of the oral cavity, the way the presence of abnormal dental order affecting horses manifests, and the proper way to perform a clinical examination of the cavity, so as to facilitate the use of preventive treatments and, in the event of an affection, reach an accurate diagnosis and then establish the appropriate treatment. It is worth noting that veterinary dentistry has been neglected by professionals who have allowed it to be invaded by empiricists or human dentists.

Através do tempo, os equinos têm evoluído tanto anatomicamente como em seus hábitos alimentares devido a sua domesticação, portanto, sua dentição também mudou, mas continua sendo a pista que permite conhecer a idade do animal. Na prática da clínica veterinária é necessário conhecer a estrutura e fisiologia da cavidade oral, e a maneira como se manifesta a presença de alterações de ordem dental que afetam aos equinos, e de que forma se deve realizar um correto exame clínico da cavidade oral, facilitando o uso de tratamentos preventivos e, no caso de que exista uma afecção, chegar a um diagnóstico acertado e posteriormente estabelecer o tratamento adequado. É importante ter em conta que a odontologia veterinária se descuidou por parte dos profissionais deixando que seja invadida por empíricos ou dentistas especializados em humanos.