Effect of bariatric surgery in the body burden of persistent and non-persistent pollutants: longitudinal study in a cohort of morbidly obese patients.

Introduction: Obesity is a pathological state that involves the dysregulation of different metabolic pathways and adipose tissue cells, constituting a risk factor for the development of other diseases. Bariatric surgery is the most effective treatment. The study of the behavior of pollutants in situations of extreme weight loss can provide biomonitoring information and tools to manage diseases of environmental etiology. Aim: To determine the prevalence of serum persistent and non-persistent pollutants in obese patients subjected to bariatric surgery and analyze the impact of sociodemographic variables on these changes. Methods: GC-MS/MS and UHPLC-MS/MS were utilized to determine the detection rates and concentrations of 353 compounds, including persistent organic pollutants (POPs), pesticides, pharmaceuticals, and rodenticide, in serum samples of 59 obese patients before and after undergoing bariatric surgery. Results: Detection rates of p,p'-DDE, HCB, ß-HCH, naphthalene, phenanthrene and PCB congeners 138, 153 and 180 significantly increased due to surgery-induced weight loss. Serum levels of p,p'-DDE, PCB-138, PCB-153 and PCB-180 also increased after surgery. Correlations between naphthalene levels, weight loss, variation of total lipids and time after surgery were found. Additionally, correlations were observed between concentrations of PCB-138 and weight loss, and between phenanthrene levels and reduction of total lipids. No statistically significant differences were observed for other groups of contaminants, pharmaceuticals and other chemicals included in the quantification methods. Conclusions: Increment of POPs was observed after bariatric surgery. Serum concentrations of POPs after surgery were influenced by adiposity-related variables. Although biomonitoring studies show a decreasing tendency of exposure, rapid weight loss leads to an increase of circulating POPs. Further research on the interplay between adipose tissue, POPs and peripheral organs is required.

The xenobiotic transporter ABCC4/MRP4 promotes epithelial mesenchymal transition in pancreatic cancer.

The xenobiotic transporter ABCC4/MRP4 is highly expressed in pancreatic ductal adenocarcinoma (PDAC) and correlates with a more aggressive phenotype and metastatic propensity. Here, we show that ABCC4 promotes epithelial-mesenchymal transition (EMT) in PDAC, a hallmark process involving the acquisition of mesenchymal traits by epithelial cells, enhanced cell motility, and chemoresistance. Modulation of ABCC4 levels in PANC-1 and BxPC-3 cell lines resulted in the dysregulation of genes present in the EMT signature. Bioinformatic analysis on several cohorts including tumor samples, primary patient-derived cultured cells, patient-derived xenografts, and cell lines, revealed a positive correlation between ABCC4 expression and EMT markers. We also characterized the ABCC4 cistrome and identified four candidate clusters in the distal promoter and intron one that showed differential binding of pro-epithelial FOXA1 and pro-mesenchymal GATA2 transcription factors in low ABCC4-expressing HPAF-II and high ABCC4-expressing PANC-1 xenografts. HPAF-II xenografts showed exclusive binding of FOXA1, and PANC-1 xenografts exclusive binding of GATA2, at ABCC4 clusters, consistent with their low and high EMT phenotype respectively. Our results underscore ABCC4/MRP4 as a valuable prognostic marker and a potential therapeutic target to treat PDAC subtypes with prominent EMT features, such as the basal-like/squamous subtype, characterized by worse prognosis and no effective therapies.

[Tele-rehabilitation in musculoskeletal pathology of the upper and lower limb]. / Telerrehabilitación en patología musculoesquelética de miembro superior e inferior.

Chronic musculoskeletal conditions cause pain and disability and have significant impact on morbidity worldwide. Tele-rehabilitation is proposed as an alternative or complement to improve patient's muscle function, pain, and quality of life. However, the satisfaction of both patients and professionals must be assessed, together with the patient's daily life activity independence. A search of the literature was made to locate assessment reports, systematic reviews and reports from regulatory bodies with support from a documentarian from the Andalusian Health Technologies Assessment Area (AETSA). For this purpose, the following sources were used: Medline, EMBASE, INAHTA (international network of health technologies assessment) and PEDro (Physiotherapy Evidence Database) from 2014 onwards. Subsequently a secondary search was carried out on the articles selected in the initial search. A search of open clinical trials was also carried out in the database: www.ClinicalTrials.gov Initially 345 articles were identified. Duplicated articles (57) were excluded. By first analysing the title and abstract 238 articles were excluded. The full texts of the remaining 30 articles were analysed. Finally 18 articles were included.

Cicatrizing keratoconjunctivitis secondary to ocular lichen planus: A case report.

The aim of this article is to report clinical features and therapeutic approach of cicatrizing keratoconjunctivitis secondary to ocular lichen planus based on a case report. The patient is a 77-year-old female with a history of ocular discomfort and recurrent keratoconjunctivitis that did not improve with conservative treatment, as well as a history of oral and nasal aphthous ulcers. After a complete ophthalmologic, dermatologic and anatomopathological study, the diagnosis of ocular lichen planus was established and immunosuppressive treatment was initiated. Most cases of ocular lichen planus are presented as chronic cicatricial conjunctivitis. A correct differential diagnosis, as well as an early detection are essential for the control of this entity and its sequelae. Treatment, based on corticosteroids and immunosuppressants, both topical and systemic, is aimed at controlling inflammation and scarring.

Sedimentary environmental quality of a biosphere reserve estuary in southwestern Iberian Peninsula.

The Huelva estuary is formed by the common mouths of the Odiel and Tinto Rivers, and inside this ecosystem is the biosphere reserve of the Odiel saltmarshes. This ecosystem has been historically affected by acid mine drainage (AMD) and by releases of pollutants from five phosphoric acid industrial plants and phosphogypsum (PG) waste stacks located in the area. This study carried out a comprehensive assessment of the environmental impact of the biosphere reserve of the Odiel saltmarshes. To this end, it was necessary to find a suitable sedimentary background (Piedras River in our case). To quantify this impact, several pollution indexes were used. According to the values reached by the indexes, this impact was classified as "serious" pollution for most trace elements, excepting the deepest layers, and "low-moderate" pollution for the 238U-series radionuclides, while no pollution for the 232Th-series and 40K radionuclides was found as expected.

Allergic Contact Dermatitis to Topical Ophthalmic Drugs: Review of Frequently Used Allergens in Spain. / Dermatitis alérgica de contacto a productos oftalmológicos: revisión de los alérgenos de uso frecuente en España.

Allergic contact dermatitis induced by the use of ophthalmic topical drugs is one of the most common causes of eyelid dermatitis. The introduction of new formulations, both of active ingredients and excipients, and the lack of marketing in some of them, makes patch testing in patients whose source of contact are topical ophthalmic drugs truly challenging. Across this manuscript, most, if not all, topical ophthalmic drugs used in our national health system have been collected, including information on the allergens available, and the concentration and vehicle advised for those that still remain unavailable.

[Acute symptomatic epileptic seizures. A clinical-electroencephalographic etiological description and prognosis of an oncopediatric series]. / Crisis epilépticas sintomáticas agudas. Descripción clinicoelectroencefalográfica etiológica y pronóstico de una serie oncopediátrica.

AIM: To determine clinical, electroencephalographic, therapeutic and evolutive characteristics of a series of oncopediatric patients with acute symptomatic seizures. PATIENTS AND METHODS: We performed a retrospective and prospective descriptive analysis of clinical records of oncopediatric children evaluated by neurology at the comprehensive outpatient Center for Hemato-Oncological Patients during 2017-2021. We included children aged one month to 17 years with intracranial and extracranial tumors who presented with acute symptomatic seizure (ASC). We defined acute symptomatic seizure according to the 2010 International League Against Epilepsy. We classified seizures according to 2017 International League Against Epilepsy classification. We excluded any patient with a diagnosis of previous epilepsy and non-epileptic paroxysmal episodes. RESULTS: We analyzed 44 cases with a median of 4 years (range: 1 month-17 years) and mean of 5.75 months (range: 1 month-11 months) and 8.33 years (2-17 years). The main etiologies were neurotoxicity and post-surgical context. Four patients presented dysnatremias and two associated with endocranial hypertension. Forty-one electroencephalograms were performed with intercritical results with abnormalities in the baseline rhythm, but without foci or paroxysms. There were no critical recordings. Focal seizures were 25 (56.8%) and generalized seizures 19 (43.18%). Levetiracetam was the most commonly used drug for acute management. CONCLUSIONS: Our cohort shows that ASC, in this population, do not show considerable differences between focal motor and generalized seizures and occur mostly in neurotoxic and post-surgical contexts. Dysnatremias and endocranial hypertension associated with ASC were also recorded. Postcrisis electroencephalograms were without foci or paroxysms and good seizure evolution.

TITLE: Crisis epilépticas sintomáticas agudas. Descripción clinicoelectroencefalográfica etiológica y pronóstico de una serie oncopediátrica.Objetivo. Determinar las características clínicas, electroencefalográficas, terapéuticas y evolutivas de una serie de pacientes oncopediátricos con convulsiones sintomáticas agudas. Pacientes y métodos. Efectuamos un análisis descriptivo retrospectivo y prospectivo de registros clínicos de niños oncopediátricos evaluados por neurología en el Centro Ambulatorio Integral de Pacientes Hematooncológicos durante 2017-2021. Incluimos a niños de 1 mes a 17 años con tumores intracraneales y extracraneales que presentaron convulsiones sintomáticas agudas (CSA). Definimos convulsión sintomática aguda según la clasificación de la Liga Internacional contra la Epilepsia de 2010. Clasificamos las crisis epilépticas según la clasificación de la Liga Internacional contra la Epilepsia de 2017. Excluimos a todo paciente con diagnóstico de epilepsia previa y de episodios paroxísticos no epilépticos. Resultados. Analizamos 44 casos, con una mediana de 4 años (rango: 1 mes-17 años) y una media de 5,75 meses (rango: 1 mes-11 meses) y 8,33 años (2-17 años). Registramos como principales etiologías la neurotoxicidad y el contexto posquirúrgico, con cuatro pacientes asociados a disnatremias y dos a hipertensión endocraneana. Se realizaron 41 electroencefalogramas, con resultados intercríticos con anormalidades en el ritmo de base, pero sin focos ni paroxismos. No hubo registros críticos. Las convulsiones focales fueron 25 (56,8%), y las generalizadas, 19 (43,18%). El levetiracetam fue el fármaco más utilizado para el tratamiento agudo. Conclusiones. Nuestra cohorte muestra que las CSA, en esta población, no evidencian diferencias considerables entre convulsiones focales motoras y generalizadas, y ocurren mayormente en un contexto neurotóxico y posquirúrgico. También se registraron disnatremias e hipertensión endocraneana asociadas a CSA. Los electroencefalogramas poscrisis fueron sin focos o paroxismos y con evolución de las crisis.

Amygdala structure and function and its associations with social-emotional outcomes in a low-risk preterm sample.

Amygdala atypical volume development and functional connectivity (FC) at small gestational ages (GA) have been found across childhood. This adult-oriented study assesses whether altered amygdala structure and function is present following low-risk preterm birth. T1-weighted and resting-state functional MRI images of 33 low-risk preterm (30-36 weeks' GA) and 29 full-term (37-42 weeks' GA) young adults of both sexes, aged between 20 and 32 years old, were analyzed using FreeSurfer (v6.0.0) and Coon Toolbox (v21.a). The social-emotional assessment included Happé's Strange Stories Test, the Moral Judgment Test, Delay-Discounting Test, Adult Self Report, and Emotion Regulation Questionnaire. No differences were found in social-emotional outcomes or amygdala volumes between the groups. Low-risk preterm young adults showed increased FC between the left amygdala, right amygdala and medial frontal cortex (MedFC) (F = 9.89, p-FWE = 0.009) at cluster level compared to their full-term peers. However, significant results at connection level were not observed between left and right amygdala. Lastly, increased FC at cluster level between the right amygdala and MedFC, and left amygdala and MedFC, was related to better social-emotional outcomes only in low-risk preterm young adults (F = 6.60, p-FWE = 0.036) at cluster level. At connection level, in contrast, only right amygdala-MedFC increased FC was significantly associated with better social-emotional outcomes. This study reveals that low-risk prematurity does not have an effect on social-emotional outcomes or structural amygdala volumes during young adulthood. However, individuals who were considered to be at a lower risk of exhibiting neurodevelopmental alterations following preterm birth demonstrated increased FC between the left and right amygdala and MedFC.

[Evolution of the perception of the safety culture of healthcare professionals in a pediatric emergency department]. / Evolución de la percepción de la cultura de seguridad de los profesionales sanitarios en una urgencia pediátrica.

BACKGROUND AND AIM: Safety culture (SC) is a fundamental tool for minimizing adverse events and improving safety and quality of care. Our objective, therefore was to analyze the evolution of the SC of healthcare professionals in a pediatric emergency department (PED) after the implementation of a risk management system for patient safety based on the UNE:EN:ISO 179003 Standard and the execution of new safe practices for Joint Commission International accreditation. At the same time describe the current strengths and weaknesses. METHODS: Quasi-experimental, single-center study. All PED professionals participated in the study. An initial measurement of SC was performed through the Hospital Survey on Patient Safety Culture (HSOPS) questionnaire of the Agency for Healthcare Research and Quality adapted to Spanish in 2014. Pro-patient safety strategies were implemented between 2015 and 2022. A subsequent measurement was performed in 2022. RESULTS: The response rate in 2014 was 55% and 78% in 2022. On both occasions the group with the highest participation was nurses with 35.1% and 34.8%, respectively. Five dimensions improved after the interventions: frequency of adverse events (25.2%, p<0.001), organizational learning (25%, p<0.001), feedback and communication about errors (22.3%, p<0.001), non-punitive response to errors (6.5%, p = 0.176), and management support (4%, p = 0.333). CONCLUSIONS: The actions carried out had a positive influence on organizational learning and the frequency of adverse events reported and communication within the team. In contrast, the perception of SC did not increase.

Trastorno de la conducta alimentaria tipo evitacion y/o restricción: Abordaje desde la consulta de Psiquiatría / Avoidant/restrictive food intake disorder: Clinical approach from child psychiatry

El trastorno por evitación/restricción de la ingesta de alimentos (TERIA) es un diagnóstico de reciente incorporación al Manual diagnóstico y estadístico de los trastornos mentales (DSM-V). Se trata de un trastorno que se asocia a importantes consecuencias médicas, emocionales y del desarrollo del niño y cuya evaluación e intervención debe ser eminentemente de tipo multidisciplinar. En este artículo se revisan algunos aspectos clave de la clínica evaluación e intervención desde el enfoque de la psiquiatría infantil.(AU)

Avoidant/Restrictive Food Intake Disorder (ARFID) has been a recently added diagnosis to the Diagnostic and Statistical Manual of Mental Disorders (DSM-V). It is a disorder that is associated with significant medical, emotional and developmental negative consequences. Assesment and intervention of this disorder must be multidisciplinary. This article reviews some key aspects of clinical assessment and intervention from a child psychiatry perspective.(AU)

¿Qué pasa durante y después del síndrome inflamatorio multisistémico pediátrico vinculado a SARS-CoV-2? / What happens during and after multisystem inflammatory syndrome in children associated with SARS-CoV-2?

Objetivo. Analizar las características clínicas y analíticas de los pacientes diagnosticados de síndrome inflamatorio multisistémico pediátrico vinculado a SARS-CoV-2 (SIM-PedS) en la Comunidad Autónoma del Principado de Asturias, durante su ingreso y en los seis meses posteriores. Material y métodos. Estudio descriptivo, observacional, prospectivo (diciembre 2020 - junio 2022). Se incluyeron los pacientes menores de 18 años diagnosticados de SIM-PedS en la Comunidad Autónoma del Principado de Asturias. Se recogieron datos demográficos, clínicos y analíticos durante el ingreso y en los seis meses posteriores. Resultados. Durante el periodo de estudio, se incluyeron 16 pacientes (11 varones, edad mediana 10,6 años). Todos los pacientes tuvieron fiebre, 12 clínica gastrointestinal y 12 exantema. Todos los pacientes presentaron elevación de reactantes de fase aguda, 13 elevación de la porción N-terminal del pro-péptido natriurético tipo B, 10 linfopenia y 6 trombopenia. En la evaluación cardiológica durante el ingreso se encontraron alteraciones en seis pacientes. Todos los pacientes recibieron inmunoglobulinas, 14 corticoides y 6 inotrópicos. Nueve pacientes precisaron ingreso en la Unidad de Cuidados Intensivos Pediátricos (UCIP), con una estancia mediana de cuatro días. Un paciente falleció. No se han observado alteraciones reseñables ni en la clínica ni en la analítica ni en la evaluación cardiaca durante los seis meses posteriores al alta. Conclusiones. Los casos recogidos han mostrado las características clínicas y analíticas descritas en la literatura sobre el SIM-PedS, requiriendo más de la mitad ingreso en UCIP y recibiendo en todos los casos tratamiento con inmunoglobulinas. Presentaron frecuentemente afectación cardiológica, falleciendo un paciente. A los seis meses del episodio, ningún paciente ha mostrado afectación clínica, analítica ni de la función cardiaca (AU)

Aim. To analyze the clinical and analytical characteristics of patients diagnosed with Multisystem Inflammatory Syndrome in Children associated with SARS-CoV-2 (MIS-C) in the autonomous community of the Principality of Asturias, during their admission and in the subsequent six months. Material and methods. Descriptive, observational, prospective study (December 2020 - June 2022). Patients under 18 years of age diagnosed with MIS-C in the autonomous community of the Principality of Asturias were included. Demographic, clinical and analytical data were collected during admission and in the following six months. Results. During the study period, 16 patients were included (11 males, median age 10.6 years). All patients had fever, 12 had gastrointestinal symptoms and 12 had rash. All patients presented elevation of acute phase reactants, 13 elevation of the N-terminal portion of B-type natriuretic pro-peptide, 10 lymphopenia and 6 thrombopenia. In the cardiological evaluation during admission, alterations were found in six patients. All patients received immunoglobulins, 14 corticosteroids and 6 inotropes. Nine patients required admission to the Pediatric Intensive Care Unit (PICU), with a median stay of four days. One patient died. No notable alterations have been observed either in clinical symptoms, laboratory tests or cardiac evaluation during the six months after discharge. Conclusions. The cases collected have shown the clinical and analytical characteristics described in the literature on MIS-C, with more than half requiring admission to the PICU and receiving treatment with immunoglobulins in all cases. They frequently presented cardiological involvement, with one patient dying. Six months after the episode, no patient has shown clinical, analytical or cardiac function impairment (AU)

Estudio prospectivo sobre el tratamiento conservador de las fracturas de cuello de quinto metacarpiano / Prospective study about orthopaedic treatment of fifth metacarpal neck fractures

Introducción: La fractura de cuello del quinto metacarpiano se trata tradicionalmente mediante la reducción cerrada e inmovilización con férula en intrínseco plus. Una alternativa es el tratamiento funcional mediante sindactilia. Nuestro objetivo es comparar ambos tratamientos buscando diferencias de resultado funcional entre ambas opciones. Método: Realizamos un estudio de cohortes prospectivo, controlado, enmascarado y aleatorizado con pacientes mayores de 18años con esta lesión y angulación<40°, atendidos entre mayo de 2019 y mayo de 2020 en el Área Sanitaria de Vigo. Se recogieron las variables: sexo, edad, lado, angulación de la fractura, movilidad de la articulación metacarpofalángica (MCF), fuerza de prensión, dolor, consolidación de la fractura, Quick DASH y grado de satisfacción y confort. Esta información fue recogida a las 4 y a las 6 semanas. Resultados: La muestra constó de 39 hombres y una mujer. La edad media fue de 36,1años. El 90% afectó a la mano derecha siendo todos los pacientes diestros, encontrando diferencias estadísticamente significativas en la flexión de la articulación MCF a las 4 semanas y en el grado de molestia de la inmovilización, ambos en favor de la sindactilia (p<0,05). El resto de variables recogidas no mostraron significación estadística. En todos los pacientes se consiguió la consolidación de la fractura. Conclusión: A raíz de los resultados obtenidos, consideramos que ambas inmovilizaciones pueden utilizarse en el tratamiento de estas fracturas; sin embargo, la sindactilia demuestra una movilidad en flexión de la articulación MCF más temprana y mejor tolerancia.(AU)

Introduction: The fifth metacarpal neck fracture is traditionally treated with closed reduction and intrinsic plus cast immobilization. Another alternative and more functional treatment is the syndactylia. The aim of our study is to compare both treatments searching for any differences in their functional outcomes. Method: We did a prospective, controlled, masked, randomized cohort study with patients over 18 years old attended from May 2019 to May 2020 in Vigo's Sanitary Area with this injure and an angle below 40°. The collected data was: sex, age, fracture angle, range of motion of the metacarpophalangeal articulation (MCFA), grip strength, pain, fracture consolidation, Quick DASH and comfort 4 and 6 weeks after the injury. Results: 39 men and 1 woman were included in the sample. 36.1 years old as the age average. 90% of the injuries affected the right hand, being all the patients right-handed, finding statistically significant differences in MCFA flexion within 4 weeks and in grade of discomfort, both in favour of the syndactylia (p<0.05). Any of the other collected data was statistically significant. Every fracture achieved consolidation at the end of the follow-up. Conclusion: Following the results, we consider both immobilizations good treatment options of these fractures; nevertheless, syndactylia has proven an earlier MCFA flexion recovery and a better tolerance.(AU)

Prospective study about orthopaedic treatment of fifth metacarpal neck fractures / Estudio prospectivo sobre el tratamiento conservador de las fracturas de cuello de quinto metacarpiano

Introduction: The fifth metacarpal neck fracture is traditionally treated with closed reduction and intrinsic plus cast immobilization. Another alternative and more functional treatment is the syndactylia. The aim of our study is to compare both treatments searching for any differences in their functional outcomes. Method: We did a prospective, controlled, masked, randomized cohort study with patients over 18 years old attended from May 2019 to May 2020 in Vigo's Sanitary Area with this injure and an angle below 40°. The collected data was: sex, age, fracture angle, range of motion of the metacarpophalangeal articulation (MCFA), grip strength, pain, fracture consolidation, Quick DASH and comfort 4 and 6 weeks after the injury. Results: 39 men and 1 woman were included in the sample. 36.1 years old as the age average. 90% of the injuries affected the right hand, being all the patients right-handed, finding statistically significant differences in MCFA flexion within 4 weeks and in grade of discomfort, both in favour of the syndactylia (p<0.05). Any of the other collected data was statistically significant. Every fracture achieved consolidation at the end of the follow-up. Conclusion: Following the results, we consider both immobilizations good treatment options of these fractures; nevertheless, syndactylia has proven an earlier MCFA flexion recovery and a better tolerance.(AU)

Introducción: La fractura de cuello del quinto metacarpiano se trata tradicionalmente mediante la reducción cerrada e inmovilización con férula en intrínseco plus. Una alternativa es el tratamiento funcional mediante sindactilia. Nuestro objetivo es comparar ambos tratamientos buscando diferencias de resultado funcional entre ambas opciones. Método: Realizamos un estudio de cohortes prospectivo, controlado, enmascarado y aleatorizado con pacientes mayores de 18años con esta lesión y angulación<40°, atendidos entre mayo de 2019 y mayo de 2020 en el Área Sanitaria de Vigo. Se recogieron las variables: sexo, edad, lado, angulación de la fractura, movilidad de la articulación metacarpofalángica (MCF), fuerza de prensión, dolor, consolidación de la fractura, Quick DASH y grado de satisfacción y confort. Esta información fue recogida a las 4 y a las 6 semanas. Resultados: La muestra constó de 39 hombres y una mujer. La edad media fue de 36,1años. El 90% afectó a la mano derecha siendo todos los pacientes diestros, encontrando diferencias estadísticamente significativas en la flexión de la articulación MCF a las 4 semanas y en el grado de molestia de la inmovilización, ambos en favor de la sindactilia (p<0,05). El resto de variables recogidas no mostraron significación estadística. En todos los pacientes se consiguió la consolidación de la fractura. Conclusión: A raíz de los resultados obtenidos, consideramos que ambas inmovilizaciones pueden utilizarse en el tratamiento de estas fracturas; sin embargo, la sindactilia demuestra una movilidad en flexión de la articulación MCF más temprana y mejor tolerancia.(AU)

Estudio de pacientes pediátricos con fenotipo clínico y bioquímico de síndrome de déficit de transportador de glucosa cerebral (GLUT-1) / Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome

Introducción: El síndrome de déficit del transportador de glucosa cerebral (GLUT1DS) puede presentar fenotipos variados, incluyendo epilepsia, déficit intelectual y trastorno del movimiento. La mayoría presenta hipoglucorraquia y/o defectos en el gen SLC2A1, aunque existen pacientes sin hipoglucorraquia y otros con genética de SLC2A1-negativa, o con defectos en otros genes y fenotipo compatible. Objetivos: Describir las características clínicas, bioquímicas y genéticas y realizar un análisis univariante de un grupo de pacientes con fenotipo clínico y bioquímico de GLUT1DS, con o sin genética SLC2A1-positiva. Material y métodos: Se incluyeron 13 pacientes con criterios clínico-bioquímicos de GLUT1DS. Se realizó secuenciación de SLC2A1 y MLPA. En los casos negativos se realizó exoma clínico. Resultados: Seis presentaron fenotipo clásico, 2 discinesia paroxística, 2 trastornos del movimiento complejo, 2 ausencias precoces y otro presentó epilepsia con ausencias infantiles refractaria a farmacoterapia. Seis fueron SLC2A1-positivos. Y en 5 de los SLC2A1-negativos se identificó otro defecto genético. No hubo diferencias significativas entre los dos grupos en edad de inicio, presentación clínica, microcefalia, discapacidad intelectual ni respuesta a dieta cetogénica. De forma no significativa, los pacientes SCL2A1-positivos presentaron más cambios clínicos en relación con la ingesta (66,7% vs. 28,6%) y mayor persistencia de síntomas motores (66% vs. 28,6%). De forma significativa, presentaron menor glucorraquia (34,5 mg/dl vs. 46 mg/dl, p = 0,04) e índice glucorraquia/glucemia más bajo (0,4 vs. 0,48, p = 0,05) que los SLC2A1-negativos. Conclusiones: GLUT1DS puede ser causado por defectos genéticos en otros genes diferentes de SLC2A1 en pacientes con fenotipo compatible, hipoglucorraquia y buena respuesta a dieta cetogénica. (AU)

Introduction: Glucose transporter type 1 (GLUT1) deficiency syndrome may present a range of phenotypes, including epilepsy, intellectual disability, and movement disorders. The majority of patients present low CSF glucose levels and/or defects in the SLC2A1 gene; however, some patients do not present low CSF glucose or SLC2A1 mutations, and may have other mutations in other genes with compatible phenotypes. Aims: We describe the clinical, biochemical, and genetic characteristics of the disease and perform a univariate analysis of a group of patients with clinical and biochemical phenotype of GLUT1 deficiency syndrome, with or without SLC2A1 mutations. Material and methods: The study included 13 patients meeting clinical and biochemical criteria for GLUT1 deficiency syndrome. SLC2A1 sequencing and multiplex ligation-dependent probe amplification were performed; exome sequencing was performed for patients with negative results. Results: Six patients presented the classic phenotype; 2 paroxysmal dyskinesia, 2 complex movement disorders, 2 early-onset absence seizures, and one presented drug-resistant childhood absence epilepsy. Six patients were positive for SLC2A1mutations; in the other 5, another genetic defect was identified. No significant differences were observed between the 2 groups for age of onset, clinical presentation, microcephaly, intellectual disability, or response to ketogenic diet. Patients ith SLC2A1 mutations presented more clinical changes in relation to diet (66.7% vs. 28.6% in the SLC2A1-negative group) and greater persistence of motor symptoms (66% vs. 28.6%); these differences were not statistically significant. Significant differences were observed for CSF glucose level (34.5 vs. 46 mg/dL, P = .04) and CSF/serum glucose ratio (0.4 vs. 0.48, P < .05). [...] (AU)

Papel de la perfusión normotérmica con oxigenación de membrana extracorpórea en la donación en asistolia controlada en España / Role of normothermic perfusion with ECMO indonation after controlled cardiac death in Spain

Spain has become one of the most active countries in donation after controlled cardiac death, using normothermic abdominal perfusion with ECMO in more than 50% of all donors – a situation contributed to by the creation of mobile teams to support hospitals lacking this technology. The donation process must be respectful of the wishes and values of the patients and their relatives, especially if there is pre mortem manipulation, and the absence of cerebral perfusion should be guaranteed. The liver is the most benefited organ by reducing biliary complications as well as the loss of grafts. In renal transplantation, the technique could contribute to reduce the incidence of delayed graft function. In addition, the procedure is compatible with surgical rapid recovery in hypothermia when there is also lung donation. The future lies in the consolidation of cardiac donation by extending normothermic perfusion to the thoracic cavity (AU)

España se ha convertido en uno de los países más activos en donación en asistolia controlada incorporando la perfusión abdominal normotérmica con ECMO en más del 50% de los donantes, a lo que ha contribuido la creación de equipos móviles para apoyo a hospitales carentes de esta tecnología. El proceso de donación debe ser respetuoso con los deseos y valores del paciente y sus familiares, especialmente si hay manipulación pre mortem, y debe asimismo garantizar la ausencia de flujo cerebral. El hígado es el órgano más beneficiado al reducirse las complicaciones biliares, así como la pérdida de injertos. En el trasplante renal podría contribuir a reducir la incidencia de retraso en la función inicial del injerto; además, el procedimiento es compatible con la cirugía súper rápida en hipotermia cuando también hay donación pulmonar. El futuro pasa por la consolidación de la donación cardíaca al extender la perfusión normotérmica a la cavidad torácica (AU)

Calidad de vida en demencia Alzheimer: un nuevo desafío / Quality of life in Alzheimer's dementia: a new challenge

Resumen El progresivo envejecimiento de la población mundial se encuentra directamente asociado al aumento de las patologías neurodegenerativas. Dentro de estas, la Enfermedad de Alzheimer es el tipo de demencia de mayor prevalencia a nivel mundial y se asocia a un mayor deterioro de la calidad de vida, no solo en los pacientes, sino que también en sus cuidadores y entorno familiar. Frente a este escenario, durante los últimos años ha adquirido especial importancia el evaluar la calidad de vida en pacientes con demencia Alzheimer, siendo un aspecto de creciente interés en el ámbito clínico y de la salud pública al ser considerado como un indicador en la medición de la efectividad de los distintos tipos de intervenciones, farmacológicas y no farmacológicas, sobre la enfermedad y su evolución. El conocer el concepto calidad de vida por parte de los equipos de salud y la evaluación clínica de esta en pacientes con demencia Alzheimer se ha vuelto un pilar fundamental tanto en el manejo, como en el uso de la información para la toma de decisiones en relación a políticas públicas relacionadas a pacientes con demencia. En este trabajo se abordará la temática desde tres ámbitos, la importancia de la enfermedad de Alzheimer, la calidad de vida a lo largo de los años, y como ésta puede ser utilizada en el manejo de patologías neurodegenerativas como la demencia.

The progressive aging of the world population is directly associated with the increase in neurodegenerative pathologies. Among these, Alzheimer's disease is the most prevalent type of dementia worldwide which is associated with a greater deterioration in the quality of life, not only in patients but also in their caregivers and family environment. In this context, during the last years has become important to evaluate the quality of life in patients with Alzheimer's dementia to be an area of growing interest in clinical and public health because it is considered as an indicator in effectiveness measurement of the different types of interventions, pharmacological and non-pharmacological, on the disease and its evolution. Heath teams know the concept of quality of life and its clinical evaluation in patients with Alzheimer's dementia and it has become fundamental support for both management and the use of information for decision-making in the field of public policies related to patients with dementia. In this viewpoint the theme will be addressed from three areas, the importance of Alzheimer's disease, quality of life throughout history, and how it can be used in the management of neurodegenerative diseases such as dementia.

Tumor fibroso solitario de la pleura / Solitary fibrous tumor of the pleura

El tumor fibroso solitario de la pleura (TFSP) representa una neoplasia benigna de evolución habitualmente silente, hallazgo incidental y heterogeneidad en su presentación. Raramente se malignizan y la sintomatología se relaciona fundamentalmente con el compromiso por compresión de las estructuras vecinas. Su tratamiento es la cirugía. Se describe el caso de un paciente masculino de 49 años con antecedentes de hipertensión arterial, diabetes mellitus y obesidad que consultó al Servicio de urgencias por disnea. Se solicitó tomografía de tórax que evidenció voluminosa masa de densidad de partes blandas en hemitórax izquierdo con desplazamiento del mediastino y descenso del diafragma del mismo lado. La fibrobroncoscopia no evidenció lesión endoluminal. Fue evaluado por Cirugía del Tórax. Se realizó abordaje de la masa mediante toracotomía postero lateral izquierda. El estudio anatomopatológico informó formación tumoral de 25 × 16 × 13 cm, peso de 1905 gr y en la microscopía se describió proliferación celular fibroblástica, células fusiformes de núcleos pequeños ovoides y escaso citoplasma dispuestas en haces desordenados con colágeno interpuesto. La inmunohistoquímica informó vimentina y CD34 positivos. Se realizó el diagnóstico de tumor fibroso solitario de la pleura. La evolución posterior fue buena.

The solitary fibrous tumor of the pleura (SFTP) represents a benign neoplasm of commonly silent evolution, incidental finding and heterogeneous presentation. It rarely becomes malignant and symptoms mainly result from the involvement of neighboring structures due to compression. It is treated with surgery. We describe the case of a 49-year-old male patient with history of arterial hypertension, diabetes mellitus and obesity who consulted the Emergency Services because he was experiencing dyspnea. We requested chest tomography that showed a voluminous soft tissue density mass in the left hemithorax with mediastinal shift and decreased diaphragm on the same side. The fibrobronchoscopy didn't show endoluminal lesion. The patient was evaluated by the Thorax Surgery staff. The mass was treated by means of left posterolateral thorachotomy. The anatomopathological study reported the formation of a tumor of 25 × 16 ×13 cm and 1905 gr, and the microscopy described fibroblast cell proliferation, spindle cells of small ovoid nuclei and very little cytoplasm placed in disorganized bundles with collagen interposition. The immunohistochemistry disclosed positive vimentin and CD34. The patient was diagnosed with solitary fibrous tumor of the pleura, with good subsequent evolution.

Características y resultados de pacientes COVID-19 tratados con ventilación mecánica invasiva en Hospital San Juan de Dios. Marzo-junio 2020 / Features and evolution of patients with COVID-19 who required mechanical ventilation

BACKGROUND: The overall mortality of patients with COVID-19 admitted to intensive care units is approximately 40%. Aim: To describe the characteristics of a cohort of patients with COVID-19 who required invasive mechanical ventilation due to severe hypoxemic acute respiratory failure at a general hospital in Santiago, Chile. MATERIAL AND METHODS: Review of medical records and follow up for 28 days of patients with COVID-19 confirmed by polymerase chain reaction who required invasive mechanical ventilation and who were admitted to the intensive care unit from March 24 to June 7, 2020. RESULTS: Data from 152 patients aged 58 (interquartile range (IQR) 47-65 years (66% men) was analyzed. As of July 5, 36 (24%) had died, 75 (49%) were discharged, 10 (7%) were still on invasive mechanical ventilation, 11 (7%) remained with tracheostomy but without invasive mechanical ventilation, and 20 (13%) were hospitalized in a basic unit. The median time on invasive mechanical ventilation among extubated patients was 14 days (IQR 10-21) and 121 (80%) were in the prone position. Patients who died were older, had a higher frequency of diabetes mellitus and a higher driving pressure at 7 days than those discharged alive from the intensive care unit. Conclusions: In this study mortality was lower than that reported in the first international studies, probably due to the selection of younger patients and greater knowledge of the disease.