ATP1A2-related epileptic encephalopathy and movement disorder: Clinical features of three novel patients.

OBJECTIVE: Variants in the ATP1A2 gene exhibit a wide clinical spectrum, ranging from familial hemiplegic migraine to childhood epilepsies and early infantile developmental epileptic encephalopathy (EIDEE) with movement disorders. This study aims to describe the epileptology of three unpublished cases and summarize epilepsy features of the other 17 published cases with ATP1A2 variants and EIDEE. METHODS: Medical records of three novel patients with pathogenic ATP1A2 variants were retrospectively reviewed. Additionally, the PUBMED, EMBASE, and Cochrane databases were searched until December 2023 for articles on EIDEE with ATP1A2 variants, without language or publication year restrictions. RESULTS: Three female patients, aged 6 months-10 years, were investigated. Epilepsy onset occurred between 5 days and 2 years, accompanied by severe developmental delay, intellectual disability, drug-resistant epilepsy, severe movement disorder, and recurrent status epilepticus. All individuals had pathogenic variants of the ATP1A2 gene (ATP1A2 c.720_721del (p.Ile240MetfsTer9), ATP1A2c.3022C > T (p.Arg1008Trp), ATP1A2 c.1096G > T (p.Gly366Cys), according to ACMG criteria. Memantine was p) rescribed to three patients, one with a reduction in ictal frequency, one with improvement in gait pattern, coordination, and attention span, and another one in alertness without significant side effects. SIGNIFICANCE: This study reinforces the association between ATP1A2 variants and a severe phenotype. All patients had de novo variants, focal motor seizures with impaired awareness as the primary type of seizure; of the 11 EEGs recorded, 10 presented a slow background rhythm, 7 multifocal interictal epileptiform discharges (IED), predominantly temporal IEDs, followed by frontal IED, as well as ten ictal recordings, which showed ictal onset from the same regions mentioned above. Treatment with antiseizure medication was generally ineffective, but memantine showed moderate improvement. Prospective studies are needed to enlarge the phenotype and assess the efficacy of NMDA receptor antagonist therapies in reducing seizure frequency and improving quality of life.

Urological, vascular, and infectious implications of kidney transplant: a single-center experience / Complicaciones urológicas, vasculares e infecciosas del trasplante renal: experiencia en un solo centro

Introduction: Kidney transplant has improved in the last decades due to new technologies and surgical techniques. However, there are still multiple complications associated with this procedure, which can affect the function and viability of the kidney graft. Our aim was to describe the incidence of urological, vascular, and infectious complications in the 1st month after the procedure. Methods: A cross-sectional and retrospective study was carried out. Records of all patients who underwent kidney transplant from 2007 to 2017 were reviewed and data of demographic and surgical variables as well as information of vascular, urological, and infectious complications during the 1st post-operative month were registered and analyzed. Results: A total of 243 patients that required kidney transplant were assessed. The most common chronic kidney disease etiologies were: idiopathic (25.5%), glomerulopathies (24.7%), and hypertension (23.5%). Seventy patients (28.8%) presented a complication, of which 31 were urological, 27 were infectious, and 12 were vascular. In each category, the most frequent complications were the perirenal hematoma, the urinary tract infection, and renal artery stenosis, respectively. Conclusions: The prevalence of complications found in our center is similar to that reported in the literature and it is significant. It is important for medical personnel to be aware of this data to have a high level of suspicion and make an active search, as an early diagnosis and treatment of these pathologies are crucial to avoid graft loss

Introducción: El trasplante renal ha mejorado en las últimas décadas gracias a las nuevas tecnologías y técnicas quirúrgicas. Sin embargo, aún existen múltiples complicaciones asociadas a este procedimiento, que pueden afectar la función y viabilidad del injerto renal. Nuestro objetivo fue describir la incidencia de complicaciones urológicas, vasculares e infecciosas en el primer mes tras el procedimiento. Métodos: Se realizó un estudio retrospectivo de corte transversal. Se revisaron los expedientes de todos los pacientes que se sometieron a trasplante renal desde 2007 hasta 2017 y se registraron y analizaron datos de variables demográficas y quirúrgicas, así como información de complicaciones vasculares, urológicas e infecciosas durante el primer mes postoperatorio. Resultados: Se evaluaron un total de 243 pacientes que requirieron trasplante renal. Las etiologías de enfermedad renal crónica (ERC) más frecuentes fueron: idiopática (25,5%), glomerulopatías (24,7%) e hipertensión arterial (23,5%). 70 pacientes (28,8%) presentaron alguna complicación, de los cuales 31 fueron urológicos, 27 infecciosos y 12 vasculares. En cada categoría las complicaciones más frecuentes fueron el hematoma perirrenal, la infección del tracto urinario y la estenosis de la arteria renal respectivamente. Conclusiones: La prevalencia de complicaciones encontrada en nuestro centro es similar a la reportada en la literatura y es significativa. Es importante que el personal médico conozca estos datos para tener un alto nivel de sospecha y realizar una búsqueda activa, ya que el diagnóstico y tratamiento precoz de estas patologías es fundamental para evitar la pérdida del injerto.

Narrative review of brivaracetam for genetic generalized epilepsies.

BACKGROUND: The licensed treatment options for genetic generalized epilepsies are limited although many patients with these conditions require chronic pharmacological management with antiseizure medications and there are no curative surgical treatment options. Brivaracetam is being studied as a new therapeutic option for genetic generalized epilepsies. METHOD: In order to carry out a narrative review on the efficacy and safety of brivaracetam in genetic generalized epilepsies, a literature research was performed in Pubmed, EMBASE, Cochrane and Clinical Trials.gov databases. RESULTS: Promising results were found with doses ranging from 50 to 200 mg/day in terms of efficacy (with > 50% responder rates between 36 and 84%), tolerability, and short and long-term safety (24-57% drug-associated adverse effects), with most studies reporting adequate retention rates and an absence of serious adverse effects, in monotherapy or as adjuvant therapy, even in refractory epilepsies, special populations and in patients with previous use and/or therapeutic failure with levetiracetam. CONCLUSION: According to our review, brivaracetam is a valid treatment alternative in patients with genetic generalized epilepsies capable of improving patients' quality of life by reducing seizure frequency with minimal adverse effects.

Disfunción eréctil en personas con VIH ­ Revisión de alcance / Erectile Dysfunction in People with HIV ­ A Scoping Review

Objetivo Exponer los factores que han sido asociados al desarrollo de disfunción eréctil (DE) en las personas con virus de la inmunodeficiencia humana (VIH) y cuál es la prevalencia de la disfunción eréctil en esta población. Métodos Se realizó una revisión de alcance utilizando las siguientes bases de datos: MEDLINE, CENTRAL, Embase, Scopus, Lilacs, y Psycinfo. Los artículos incluidos debían tener cualquier información relacionada con la DE en personas con VIH, su prevalencia, y posibles factores asociados. Se filtraron un total de 2.726 artículos por título y resumen, y, de estos, se seleccionaron 22 referencias para revisión de texto completo y análisis. Resultados Se encontró que las personas con VIH tienen una mayor probabilidad de presentar DE en comparación con las personas sin VIH. Algunos estudios han establecido una asociación entre la DE y trastornos psicológicos o factores orgánicos, como la lipodistrofia, la hipertensión arterial, la hipercolesterolemia, la diabetes mellitus, la depresión, la ansiedad, y el hipogonadismo. La ingesta de terapia antirretroviral (TARV), más específicamente los inhibidores de la proteasa, sigue siendo cuestionada como causante de DE en pacientes con VIH. Conclusiones Ante un paciente con diagnóstico de VIH, se debe ahondar sobre DE con el fin de recomendar e iniciar conductas terapéuticas que aseguren un mejoramiento en su calidad de vida.

Aim To present factors that have been associated with the development of erectile dysfunction (ED) in people with human immunodeficiency virus (HIV) and the frequency of erectile dysfunction among this population. Methods We performed a scoping review on the following databases: MEDLINE, CENTRAL, Embase, Scopus, Lilacs, and Psycinfo. The articles included information related to ED in people with HIV, its frequency, and possible associated factors. A total of 2,726 articles were filtered by title and abstract, and, from these, 22 references were selected for full-text review and analysis. Results People with HIV were found to be more likely to have ED compared to people without HIV. Some studies have established an association between ED and psychological disorders or organic factors, such as lipodystrophy, high blood pressure, hypercholesterolemia, diabetes mellitus, depression, anxiety, and hypogonadism. The intake of antiretroviral therapy (ART), more specifically protease inhibitors, continues to be questioned as a cause of ED in patients with HIV. Conclusions In HIV-positive men, we recommend to actively seek ED in order to initiate therapeutic conducts that can ensure an improvement in their quality of life.

Creencias islámicas respecto a la muerte y análisis sobre su impacto en la donación humana / Islamic beliefs regarding death and analysis of its impact in human donation

El islam surgió a principios del siglo VII, al este de la península arábiga, cuando Mahoma, el profeta, tuvo revelaciones del arcángel Gabriel y, consecuentemente, propuso el nacimiento de este modo de vida basado en el sometimiento a la voluntad de Alá. Las creencias alrededor de esta religión han cruzado fronteras, debido a la migración voluntaria o forzosa de su comunidad, hecho que ha marcado una influencia sociocultural de gran magnitud en sus creyentes respecto a la muerte y, por ende, a la donación humana de órganos y tejidos para trasplante. Por este motivo, su estudio constituye un tema de gran interés para los profesionales de la salud, dado que hay percepciones que influyen directamente en la concepción de sus fieles. Se tiene en cuenta el cuerpo como un ente sagrado, símbolo de la integración del alma, materia, ego e intelecto con una resurrección que podría comprometer su integridad en el proceso de donación. Sin embargo, las grandes instituciones en materia de bioética islámica respaldan que prima la obligación moral de solidaridad universal que conlleva hacerle el bien al prójimo, siempre y cuando no se infrinja un daño al ser propio.

Islam is a religion that emerged in the seventh century in the east of the Arabian Peninsula when Mahoma, the prophet, had revelations of angel Gabriel and consecutively proposed the birth of this form of life that is based on submission before the will of Allah. Beliefs around this religion have crossed borders due to the voluntary or forced migration of their community, exercising a major socio-cultural influence on its believers regarding death and, therefore, human organ donation and tissues for transplantation. For this reason, its study is an issue of great interest to health professionals, since there are perceptions that have a direct impact on the conception of their faithful. The body is considered as a sacred entity, symbol of the integration of the soul, matter, ego and intellect with a resurrection that could jeopardize its integrity when donation is carried out. However, major institutions in Islamic Bioethics support that moral obligation of universal solidarity is more important, leading to do good to the neighbor, as long as it does not infringe any damage to one's own.

Caracterización de los defectos refractivos en una población de niños de los 2 a los 14 años en Bogotá, Colombia / Characterization of Refractive Defects in a Population of Children Aged from 2 to14 years in Bogotá, Colombia

Introducción: Los defectos refractivos pueden repercutir de manera importante en el rendimiento de un individuo, sobre todo en la población pediátrica. Objetivo: Determinar la prevalencia de defectos refractivos en una muestra de 112 niños entre los 2 y los 14 años del Colegio La Candelaria, en la ciudad de Bogotá. Métodos: Estudio de corte transversal que valoró, por medio de la agudeza visual, motilidad ocular, oftalmoscopia, retinoscopia y examen subjetivo, la capacidad visual de los niños en cuestión. Resultados: Se encontró una prevalencia de defectos refractivos del 18,8 %, dentro de la cual el 13,4 % representaba astigmatismo; el 3,6%, hipermetropía, y el 1,8%, miopia. Discusión: Se compararon los resultados con aquellos de una tesis realizada en 1973, donde se estudiaron pacientes en condiciones similares. En esta, la prevalencia de defectos refractivos fue del 30,48 %, diferencia que se podría explicar por la variación de características poblacionales. Por último, se plantea la necesidad de tamizaje en otras comunidades.

Introduction: The refractive defects can have a great amount of repercussions in the performance of the individual, especially in the pediatric community. Objective: To determine the prevalence of refractive defects within a sample of 112 children between the ages of 2 and 14 from Colegio La Candelaria in the city of Bogotá. Methods: Cross-sectional study that valued through visual acuity, ocular motility, ophthalmoscopy, retinoscopy, and subjective exam, the visual capacity of the children in question. Results: We have found a prevalence of refractive defects of 18.8% were 13.4% represented astigmatism, 3.6% farsightedness and 1.8% shortsightedness. Discussion: These results were compared with those from a thesis performed in 1973 were patients with similar conditions were tested. In this one, the refractive defects were of 30.48%, a difference that can be explained by variations in population characteristics. Lastly, it arises the need of screening in other communities.