Esclerosis lateral amiotrófica y miastenia gravis (síndrome overlap): presentación de 3 nuevos casos

Sr. Editor: La asociación de miastenia gravis (MG) y esclerosis lateralamiotrófica (ELA) (síndrome overlap) no es frecuente en lapráctica clínica. La evidencia disponible sugiere un efectoprotector de la terapia inmunomoduladora en fases inicialesde enfermedad de la motoneurona (ENM)1, 2. Presentamos 3 casos de síndrome overlap cuyas características se resumenen la tabla 1.Caso 1Varón de 52 a ~nos con cuadro clínico inicial de ptosis bila-teral, diplopía y disfagia que asocia, 6-8 meses después, paresia braquial izquierda con atrofia tenar, hiperreflexiaglobal e incremento del reflejo mentoniano. En la estimu-lación repetitiva a 3 Hz se obtuvo un decremento > 10% delquinto potencial en separador del quinto dedo. La titula-ción de los anticuerpos anti-receptor de acetilcolina (ACanti-RACA) fue de 0, 74 (positividad > 0, 7) que se mantuvoen determinaciones posteriores..

A spectroscopic and proper motion search of Sloan Digital Sky Survey : red subdwarfs in binary systems

Red subdwarfs in binary systems are crucial for both model calibration and spectral classification. We search for red subdwarfs in binary systems from a sample of high proper motion objects with Sloan Digital Sky Survey spectroscopy. We present here discoveries from this search, as well as highlight several additional objects of interest. We find 30 red subdwarfs in wide binary systems including: two with spectral type of esdM5.5, 6 companions to white dwarfs and 3 carbon-enhanced red subdwarfs with normal red subdwarf companions. 15 red subdwarfs in our sample are partially resolved close binary systems. With this binary sample, we estimate the low limit of the red subdwarf binary fraction of similar to 10 per cent. We find that the binary fraction goes down with decreasing masses and metallicities of red subdwarfs. A spectroscopic esdK7 subdwarf + white dwarf binary candidate is also reported. 30 new M subdwarfs have spectral type of >= M6 in our sample. We also derive relationships between spectral types and absolute magnitudes in the optical and near-infrared for M and L subdwarfs, and we present an M subdwarf sample with measured U, V, W space velocities.Peer reviewe

Síndromes muy poco frecuentes

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCSince the year 2002, this Section of the Boletín del ECEMC: Revista de Dismorfología y Epidemiología, is dedicated to dysmorphology, cytogenetics and clinical analysis of congenital anomalies, and includes a chapter on syndromes with very low frequency. The aim of this chapter is to summarize the most important characteristics, the etiology, and the mechanisms involved in the selected syndromes. The low frequency of these syndromes, together with their probable decreasing birth prevalence due to the impact of prenatal diagnosis, imply that pediatricians and other health professionals would have less opportunity to know their clinical characteristics. This circumstance together with the overlapping of the clinical features among some of the syndromes, make difficult to perform an early diagnosis, which is important for genetic counselling, and to provide the most suitable treatment to each pacient. The syndromes included are: Aarskog, Freeman-Sheldon, Cleidocranial dysplasia, Noonan, Cardio-Facio-Cutaneous and Costello. In addition, a short summary about the differential diagnosis among Noonan, Cardio-Facio-Cutaneous and Costello syndromes is also included.N

Very low frequency Syndromes

Dismorfología, Citogenética y Clínica: Resultados de estudios sobre los datos del ECEMCThe aim of this chapter is to summarize updated knowledge about the clinical characteristics, etiology, genetic and molecular aspects, as well as mechanisms involved in syndromes having very low frequency, in order to promote their better recognition. During the last five years, a total of 30 syndromes have been published in this chapter of the Boletín del ECEMC. This issue includes the following selected syndromes: Crouzon, Pfeiffer, Apert, Saethre-Chotzen, Carpenter and Muenke. All share craniosynostosis as the main clinical feature but also present with other birth defects, the most important being limb malformations, specially syndactyly and polydactyly. Over 100 syndromes with craniosynostosis have been described, usually involving multiple sutures, and several of them are associated with limb malformations. The clinical overlapping between those syndromes makes difficult to perform a neonatal diagnosis, based on their clinical findings. However, molecular genetic testing, specifically of the FRGR1-3 and TWIST1 genes, could help to establish the diagnosis of some of them. Early diagnosis is important for establishing the most suitable treatment for each patient, as well as to offer an accurate genetic counselling and the possibility of preimplantational and/or prenatal diagnosis.N

Evolution of the use of corticosteroids for the treatment of hospitalised COVID-19 patients in Spain between March and November 2020: SEMI-COVID national registry

Objectives: Since the results of the RECOVERY trial, WHO recommendations about the use of corticosteroids (CTs) in COVID-19 have changed. The aim of the study is to analyse the evolutive use of CTs in Spain during the pandemic to assess the potential influence of new recommendations. Material and methods: A retrospective, descriptive, and observational study was conducted on adults hospitalised due to COVID-19 in Spain who were included in the SEMI-COVID- 19 Registry from March to November 2020. Results: CTs were used in 6053 (36.21%) of the included patients. The patients were older (mean (SD)) (69.6 (14.6) vs. 66.0 (16.8) years; p < 0.001), with hypertension (57.0% vs. 47.7%; p < 0.001), obesity (26.4% vs. 19.3%; p < 0.0001), and multimorbidity prevalence (20.6% vs. 16.1%; p < 0.001). These patients had higher values (mean (95% CI)) of C-reactive protein (CRP) (86 (32.7-160) vs. 49.3 (16-109) mg/dL; p < 0.001), ferritin (791 (393-1534) vs. 470 (236- 996) µg/dL; p < 0.001), D dimer (750 (430-1400) vs. 617 (345-1180) µg/dL; p < 0.001), and lower Sp02/Fi02 (266 (91.1) vs. 301 (101); p < 0.001). Since June 2020, there was an increment in the use of CTs (March vs. September; p < 0.001). Overall, 20% did not receive steroids, and 40% received less than 200 mg accumulated prednisone equivalent dose (APED). Severe patients are treated with higher doses. The mortality benefit was observed in patients with oxygen saturation </=90%. Conclusions: Patients with greater comorbidity, severity, and inflammatory markers were those treated with CTs. In severe patients, there is a trend towards the use of higher doses. The mortality benefit was observed in patients with oxygen saturation </=90%

EDUCACIÓN AMBIENTAL Y SOCIEDAD. SABERES LOCALES PARA EL DESARROLLO Y LA SUSTENTABILIDAD

Este texto contribuye al análisis científico de varias áreas del conocimiento como la filosofía social, la patología, la educación para el cuidado del medio ambiente y la sustentabilidad que inciden en diversas unidades de aprendizaje de la Licenciatura en Educación para la Salud y de la Maestría en Sociología de la SaludLas comunidades indígenas de la sierra norte de Oaxaca México, habitan un territorio extenso de biodiversidad. Sin que sea una área protegida y sustentable, la propia naturaleza de la región ofrece a sus visitantes la riqueza de la vegetación caracterizada por sus especies endémicas que componen un paisaje de suma belleza

4to. Congreso Internacional de Ciencia, Tecnología e Innovación para la Sociedad. Memoria académica

Este volumen acoge la memoria académica de la Cuarta edición del Congreso Internacional de Ciencia, Tecnología e Innovación para la Sociedad, CITIS 2017, desarrollado entre el 29 de noviembre y el 1 de diciembre de 2017 y organizado por la Universidad Politécnica Salesiana (UPS) en su sede de Guayaquil. El Congreso ofreció un espacio para la presentación, difusión e intercambio de importantes investigaciones nacionales e internacionales ante la comunidad universitaria que se dio cita en el encuentro. El uso de herramientas tecnológicas para la gestión de los trabajos de investigación como la plataforma Open Conference Systems y la web de presentación del Congreso http://citis.blog.ups.edu.ec/, hicieron de CITIS 2017 un verdadero referente entre los congresos que se desarrollaron en el país. La preocupación de nuestra Universidad, de presentar espacios que ayuden a generar nuevos y mejores cambios en la dimensión humana y social de nuestro entorno, hace que se persiga en cada edición del evento la presentación de trabajos con calidad creciente en cuanto a su producción científica. Quienes estuvimos al frente de la organización, dejamos plasmado en estas memorias académicas el intenso y prolífico trabajo de los días de realización del Congreso Internacional de Ciencia, Tecnología e Innovación para la Sociedad al alcance de todos y todas

Pensamiento social español sobre América Latina

La antología Pensamiento social español sobre América Latina tiene el objetivo principal de acercar al público académico y general la rica y diversa tradición de ideas, autores y escuelas españolas que han pensado América Latina y que, también, han influido en el propio desarrollo de las ciencias sociales latinoamericanas como impactaron, igualmente, en los ámbitos académico, cultural y político de uno y otro lado del Atlántico. Pues el desarrollo de las ciencias sociales, tanto en España como en América Latina, ha seguido historias con bastantes entrecruzamientos, algunos elementos comunes y con importantes redes intelectuales de intercambio que han establecido un contrapunto dialéctico. Pues si las circunstancias y la gestación de la propia idea de ciencias sociales y de sociología latinoamericana fueron fundadas como tal a mediados del siglo XX como un campo de investigación regional y como un proceso endógeno de producción de ideas, de categorías y de teorías, no solo tiene un valor anecdótico el señalar, entonces, la particular participación de pensadores españoles en ese movimiento. Por tal motivo, ese interés sobresaliente por América Latina lo concebimos en este volumen como un puente tendido entre dos orillas y como un diálogo franco y plural. De la Introducción de Juan Jesús Morales Martín

Effects of ATLAS 2030 gait exoskeleton on strength and range of motion in children with spinal muscular atrophy II: a case series

Abstract Background Children with spinal muscular atrophy (SMA) present muscle weakness and atrophy that results in a number of complications affecting their mobility, hindering their independence and the development of activities of daily living. Walking has well-recognized physiological and functional benefits. The ATLAS 2030 exoskeleton is a paediatric device that allows gait rehabilitation in children with either neurological or neuromuscular pathologies with gait disorders. The purpose is to assess the effects in range of motion (ROM) and maximal isometric strength in hips, knees and ankles of children with SMA type II after the use of ATLAS 2030 exoskeleton. Methods Three children (mean age 5.7 ± 0.6) received nine sessions bi-weekly of 60 min with ATLAS 2030. ROM was assessed by goniometry and strength by hand-held dynamometer. All modes of use of the exoskeleton were tested: stand up and sit down, forward and backward walking, and gait in automatic and active-assisted modes. In addition, different activities were performed during the gait session. A descriptive analysis of all variables was carried out. Results The average time of use was 53.5 ± 12.0 min in all sessions, and all participants were able to carry out all the proposed activities as well as to complete the study. Regarding isometric strength, all the measurements increased compared to the initial state, obtaining the greatest improvements for the hip flexors (60.2%) and extensors muscles (48.0%). The ROM increased 12.6% in hip and 34.1% in the ankle after the study, while knee ROM remained stable after the study. Conclusion Improvements were showed in ROM and maximal isometric strength in hips, knees and ankles after using ATLAS 2030 paediatric gait exoskeleton in all three children. This research could serve as a preliminary support for future clinical integration of ATLAS 2030 as a part of a long-term rehabilitation of children with SMA. Trial registration: The approval was obtained (reference 47/370329.9/19) by Comunidad de Madrid Regional Research Ethics Committee with Medical Products and the clinical trial has been registered on Clinical Trials.gov: NCT04837157

Surgical management of a penetrating drill bit injury to the skull base

Background: Low-energy penetrating brain injuries are rarely encountered in neurosurgical practice. Immediate surgical management remains the primary treatment strategy to control potential bleeding and prevents infectious complications. Case Description: A 28-year-old man presented with an orbital injury with left-sided chemosis, amaurosis, and ophthalmoplegia following an assault. Cranial CT revealed an industrial drill bit causing a penetrating injury to the skull base. The tip of the object reached the petrous apex. CT angiography showed no signs of cerebrovascular damage. The drill bit was visualized through a frontotemporal craniotomy. It was then carefully removed under direct microscopic vision. Postoperative ceftriaxone was administered. The patient was discharged in good condition on postoperative day 6. His vision impairment remained.Conclusion: Timely access to neuroimaging diagnostics and microneurosurgical facilities allows for good outcomes in the surgical treatment of low-velocity penetrating brain injuries. © 2022 Scientific Scholar. All rights reserved