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.

Nicotinamide, an acetylcholinesterase uncompetitive inhibitor, protects the blood‒brain barrier and improves cognitive function in rats fed a hypercaloric diet.

Oxidative stress and inflammation induced by abundant consumption of high-energy foods and caloric overload are implicated in the dysfunction of the blood‒brain barrier (BBB), cognitive impairment, and overactivation of acetylcholinesterase (AChE) and butyrylcholinesterase (BChE). These enzymes hydrolyse acetylcholine, affecting anti-inflammatory cholinergic signalling. Our aim was to evaluate whether nicotinamide (NAM) attenuates the impairment of the BBB and cognitive function, improving cholinergic signalling. Forty male rats were distributed into five groups: one group was fed a standard diet, and the remaining groups were fed a high-fat diet and a beverage with 40% sucrose (HFS; high-fat sucrose). In three of the HFS groups, the carbohydrate was replaced by drinking water containing different concentrations of NAM for 5 h every morning for 12 weeks. The biochemical profile, levels of stress and inflammation markers, cholinesterase activities, BBB permeability, and cognitive capacity were evaluated. The results showed that the HFS diet disturbed the metabolism of carbohydrates and lipids, causing insulin resistance. Simultaneously, AChE and BChE activities, levels of proinflammatory cytokines, oxidation of proteins and lipoperoxidation increased along with decreased antioxidant capacity in serum. In the hippocampus, increased activity of cholinesterases, protein carbonylation and lipoperoxidation were associated with decreased antioxidant capacity. Systemic and hippocampal changes were reflected in increased BBB permeability and cognitive impairment. In contrast, NAM attenuated the above changes by reducing oxidative stress and inflammation through decreasing cholinesterase activities, especially by uncompetitive inhibition. NAM may be a potential systemic and neuroprotective agent to mitigate cognitive damage due to hypercaloric diets.

The Arabidopsis holobiont: a (re)source of insights to understand the amazing world of plant-microbe interactions.

As holobiont, a plant is intrinsically connected to its microbiomes. However, some characteristics of these microbiomes, such as their taxonomic composition, biological and evolutionary role, and especially the drivers that shape them, are not entirely elucidated. Reports on the microbiota of Arabidopsis thaliana first appeared more than ten years ago. However, there is still a lack of a comprehensive understanding of the vast amount of information that has been generated using this holobiont. The main goal of this review was to perform an in-depth, exhaustive, and systematic analysis of the literature regarding the Arabidopsis-microbiome interaction. A core microbiota was identified as composed of a few bacterial and non-bacterial taxa. The soil (and, to a lesser degree, air) were detected as primary microorganism sources. From the plant perspective, the species, ecotype, circadian cycle, developmental stage, environmental responses, and the exudation of metabolites were crucial factors shaping the plant-microbe interaction. From the microbial perspective, the microbe-microbe interactions, the type of microorganisms belonging to the microbiota (i.e., beneficial or detrimental), and the microbial metabolic responses were also key drivers. The underlying mechanisms are just beginning to be unveiled, but relevant future research needs were identified. Thus, this review provides valuable information and novel analyses that will shed light to deepen our understanding of this plant holobiont and its interaction with the environment.

¿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)

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)

Impact of the use of antibiotics on the clinical response to immune checkpoint inhibitors in patients with non-small cell lung cancer.

OBJECTIVE: Recent research suggests that the use of antibiotics could reduce the efficacy of checkpoint inhibitors, in addition to other well-known factors. It could be due to gut microbiota modification, which impact over the immune system response. However, the information available so far is contradictory. The objective of this research was to clarify whether antibiotic use influences efficacy of checkpoint inhibitors treatments in non-small cell lung cancer patients in clinical practice. METHODS: Therefore, a retrospective observational study was designed. Use of antibiotics among patients treated with atezolizumab, pembrolizumab or nivolumab was assessed within 2 months of checkpoint inhibitors treatments initiation. RESULTS: A total of 140 patients were included, mostly men, with good performance status (ECOG 0-1), all of them previously treated with chemotherapy. An antibiotic prescription was identified in 31% of these patients, mainly fluoroquinolones or beta-lactams. The most frequent indication was respiratory infection. Both progression-free survival and overall survival were lower for patients treated with anti-infective drugs, although this difference was not statistically significant. CONCLUSIONS: More studies are needed to draw conclusions about the impact of antibiotics on the efficacy of immunotherapy.

Safety and immunogenicity of heterologous COVID-19 vaccine regimens to deal with product shortage: A randomised clinical trial in an elderly population.

Objectives: In a context of COVID-19 vaccine shortages, this study sought to evaluate the safety and efficacy of receiving one dose of Gam-COVID-Vac rAd26 followed by a second COVID-19 vaccine dose of either Gam-COVID-Vac rAd5, ChAdOx1 nCoV-19 or BBIBP-CorV in a cohort of older adults. Study design: Single-centre, randomised, open label, non-inferiority trial. Methods: Adults aged ≥65 years who had received one dose of Gam-COVID-Vac rAd26 were randomised in a 1:1:1 ratio to receive a second-dose COVID-19 vaccination of either Gam-COVID-Vac rAd5, ChAdOx1 nCoV-19 or BBIBP-CorV. The primary outcome was the assessment of the humoral immune response to vaccination (i.e. antibody titres of SARS-CoV-2 spike protein at 28 days after second-dose vaccination). In addition, neutralising antibody titres at day 28 for the three schedules were measured. Results: Of 85 participants who were enrolled in the study between 26 and July 30, 2021, 31 individuals were randomised to receive Gam-COVID-Vac rAd5, 27 to ChAdOx1 nCoV-19 and 27 to BBIBP-CorV. The mean age of participants was 68.2 years (SD 2.9) and 49 (57.6%) were female. Participants who received Gam-COVID-Vac rAd5 and ChAdOx1 nCoV1-19 showed significantly increased anti-S titres at 28 days after second-dose vaccination, but this magnitude of difference was not observed for those who received BBIBP-CorV. The ratio between the geometric mean at day 28 and baseline within each group was 11.8 (6.98-19.89) among patients assigned to Gam-COVID-Vac rAd26/rAd5, 4.81 (2.14-10.81) for the rAd26/ChAdOx1 nCoV-19 group and 1.53 (0.74-3.20) for the rAd26/BBIBP-CorV group. All of the schedules were shown to be safe. Conclusions: The findings in this study contribute to the scarce information published on the safety and immunogenicity of Gam-COVID-Vac heterologous regimens and will help the development of guidelines and vaccine programme management.

Synchronous enteroid adenocarcinoma at the ureteral implantation site after ureterosigmoidostomy.

Ureterosigmoidostomy is considered to be the oldest urinary diversion technique performed for the first time in the 19th Century in patients with urinary malformations. However, the high rate of complications as well as the significant risk of developing tumors in the colonic portion of the ureteral anastomosis have given rise to other new intestinal urinary diversion techniques. We present the case of a patient with two synchronous enteroid adenocarcinomas, with a latency period of 66 years, at the site of both ureterocolonic anastomoses after ureterosigmoidostomy performed during childhood owing to bladder exstrophy.

In utero alcohol exposure impairs vessel-associated positioning and differentiation of oligodendrocytes in the developing neocortex.

Prenatal alcohol exposure (PAE) is a major cause of nongenetic mental retardation and can lead to fetal alcohol syndrome (FAS), the most severe manifestation of fetal alcohol spectrum disorder (FASD). FASD infants present behavioral disabilities resulting from neurodevelopmental defects. Both grey and white matter lesions have been characterized and are associated with apoptotic death and/or ectopic migration profiles. In the last decade, it was shown that PAE impairs brain angiogenesis, and the radial organization of cortical microvessels is lost. Concurrently, several studies have reported that tangential migration of oligodendrocyte precursors (OPCs) originating from ganglionic eminences is vascular associated. Because numerous migrating oligodendrocytes enter the developing neocortex, the present study aimed to determine whether migrating OPCs interacted with radial cortical microvessels and whether alcohol-induced vascular impairments were associated with altered positioning and differentiation of cortical oligodendrocytes. Using a 3D morphometric analysis, the results revealed that in both human and mouse cortices, 15 to 40% of Olig2-positive cells were in close association with radial cortical microvessels, respectively. Despite perinatal vascular disorganization, PAE did not modify the vessel association of Olig2-positive cells but impaired their positioning between deep and superficial cortical layers. At the molecular level, PAE markedly but transiently reduced the expression of CNPase and MBP, two differentiation markers of immature and mature oligodendrocytes. In particular, PAE inverted their distribution profiles in cortical layers V and VI and reduced the thickness of the myelin sheath of efferent axons. These perinatal oligo-vascular defects were associated with motor disabilities that persisted in adults. Altogether, the present study provides the first evidence that Olig2-positive cells entering the neocortex are associated with radial microvessels. PAE disorganized the cortical microvasculature and delayed the positioning and differentiation of oligodendrocytes. Although most of these oligovascular defects occurred in perinatal life, the offspring developed long-term motor troubles. Altogether, these data suggest that alcohol-induced oligo-vascular impairments contribute to the neurodevelopmental issues described in FASD.

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.

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)

Study of paediatric patients with the clinical and biochemical phenotype of glucose transporter type 1 deficiency syndrome.

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 SLC2A1 mutations; 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 with 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 46mg/dL, P=.04) and CSF/serum glucose ratio (0.4 vs 0.48, P<.05). CONCLUSIONS: GLUT1 deficiency syndrome may be caused by mutations to genes other than SLC2A1 in patients with compatible phenotype, low CSF glucose level, and good response to the ketogenic diet.