Elderly-onset rheumatoid arthritis receives less aggressive therapies than young-onset rheumatoid arthritis in an Argentinian cohort.

OBJECTIVES: When rheumatoid arthritis (RA) starts after the age of 60 it is called elderly-onset rheumatoid arthritis (EORA) and when it starts earlier, young-onset rheumatoid arthritis. (YORA). There are few Latin American studies that compared both groups. The objective of the study was to evaluate differences in the clinical characteristics, evolution and treatment among patients with RA with onset before or after 60 years of age. MATERIALS AND METHODS: Observational study of patients with RA attended consecutively in four centers in Argentina. Sociodemographic data, comorbidities, clinical manifestations at diagnosis, presence of rheumatoid factor and/or anti-CCP (cyclic citrullinated peptide) and treatments received were collected. At the last visit, swollen and tender joints, assessment of disease activity by the patient and physician, the presence of radiographic erosions, and functional status using the HAQ-DI were recorded. RESULTS: 51 patients from each group were analyzed. The EORA group had a significantly higher proportion of smokers (58.8% vs. 35.3%, p = 0.029), cardiovascular history (54.9% vs. 21.6%, p = 0.001), abrupt onset (49% vs. 29.4%, p = 0.034) or with symptoms similar to PMR (19.6% vs. 0%, p = 0.001). Lower methotrexate doses were used in the EORA group: 19 mg (15-25) vs. 21.9 mg (20-25) (p = 0.0036) and more frequently did not receive bDMARDs or tsDMARDs. DISCUSSION AND CONCLUSIONS: The benefits of intensive treatment in patients with RA have been described. In this study, the use of DMARDs in the EORA group was less intensive, suggesting that advanced age constitutes a barrier in the therapeutic choice.

Enfermedad de Huntington de inicio en la infancia. Una presentación poco frecuente / Childhood-onset Huntignton´s disease. A rare presentation

Introducción La enfermedad de Huntington (EH) es una enfermedad de herencia autosómica dominante caracterizada por la expansión de tripletes de citosina-adenina-guanina (CAG) en el gen que codifica la huntingtina. Los síntomas en la descendencia suelen ser más tempranos por el fenómeno de anticipación. La clínica de inicio en la infancia, antes de los 10 años, difiere de la observada en la adultez. Se manifiesta por afectación motora, dificultades conductuales y retraso o regresión del desarrollo. La corea es infrecuente. El objetivo del caso es describir aspectos clínicos de una paciente con EH de inicio infantil. Caso clínico Niña de 5 años con antecedentes familiares de EH y desarrollo típico hasta los 3 años. Presentó progresivamente afectación del lenguaje con habilidades descendidas para su edad en aspectos expresivos y comprensivos, sin afectación en las habilidades pragmáticas y sociales. En cuanto a la motricidad, la marcha y la bipedestación eran inestables, y mostraba rigidez, distonía y movimientos coreicos. Presentó atrofia de los núcleos lenticulares y caudados en la resonancia magnética, y posteriormente se realizó el diagnóstico molecular con la expansión de tripletes CAG (51 copias). Conclusión La EH de inicio en la infancia presenta manifestaciones clínicas distintas a la forma del adulto. Debe considerarse en pacientes con afectación motora y cognitiva progresiva. Por la herencia familiar, es importante interrogar cuidadosamente sobre los antecedentes familiares y tenerla en cuenta aun sin familiares afectados por el fenómeno de anticipación. (AU)

INTRODUCTIO NHuntington’s disease (HD) is a rare autosomal dominant disease caused by the expansion of CAG triplets in the gene that encodes huntingtin. There are earlier symptoms’ onset in offspring due to the phenomenon of anticipation. The clinical features of childhood-onset HD, before age 10 years, differs from adult-onset form. It is characterized by motor impairment, behavioral difficulties and delay or regression in areas of development; while chorea is rarely seen. In this case we describe clinical aspects of a patient with childhood-onset Huntington’s disease. CASE REPORT A 5-year-old girl with a family history of HD and typical development up to 3 years of age. She progressively acquired language impairment with skills that were below her age in expressive and receptive areas, without deficits in pragmatic and social skills. Regarding motor skills, she manifested instability at walking and standing, with rigidity, dystonia and choreic movements. Atrophy of the basal ganglia was evident on MRI, EEG was normal, and molecular confirmation of CAG triplet revealed repeat length of 51 copies. CONCLUSION. Childhood-onset HD differs from adult-form´s clinical manifestations. It should be considered in patients with progressive motor and cognitive impairment. Due to family inheritance, it is important to carefully examine family history and take it into account even without relatives affected, considering the anticipation phenomenon. (AU)

La artritis reumatoide de inicio en el anciano recibe terapias menos agresivas que la artritis reumatoide de inicio en el adulto en una cohorte argentina / Elderly-onset rheumatoid arthritis receives less aggressive therapies than young-onset rheumatoid arthritis in an Argentinian cohort

Antecedentes y objetivo: Cuando la artritis reumatoide (AR) comienza después de los 60años se denomina artritis reumatoide de inicio en el anciano, y cuando se inicia antes, artritis reumatoide de inicio en el adulto. Son escasos los estudios latinoamericanos que compararon ambos grupos. El objetivo del estudio fue evaluar diferencias en las características clínicas, en la evolución y en la elección terapéutica entre los pacientes con AR de inicio antes o después de los 60años. Materiales y métodos: Estudio observacional de pacientes con AR atendidos en forma consecutiva en cuatro centros de Argentina. Se recolectaron datos sociodemográficos, comorbilidades, manifestaciones clínicas al diagnóstico, presencia de factor reumatoide y/o anti-proteínas cíclicas citrulinadas (PCC) y tratamientos recibidos. En la última visita se registraron las articulaciones tumefactas o dolorosas, la evaluación de la actividad de la enfermedad por el paciente y por el médico, la presencia de erosiones radiográficas y el estado funcional mediante el HAQ-DI. Resultados: Se analizaron 51 pacientes de cada grupo. El grupo de AR del anciano tuvo significativamente mayor proporción de fumadores (58,8% vs 35,3%, p=0,029), de antecedentes cardiovasculares (54,9% vs 21,6%, p=0,001), de inicio abrupto (49% vs 29,4%, p=0,034) o con síntomas similares a la PMR (19,6% vs 0%, p=0,001), menores dosis de metotrexato: 19mg (15-25) vs 21,9mg (20-25) (p=0,0036) y con mayor frecuencia no recibieron FAMEb o FAMEsd. Discusión y conclusiones: Se han descrito los beneficios del tratamiento intensivo en pacientes con AR. En este trabajo, el empleo de FAME en el grupo de AR de inicio en el anciano fue menos intensivo, sugiriendo que la edad avanzada constituye una barrera en la elección terapéutica.(AU)

Objectives: When rheumatoid arthritis (RA) starts after the age of 60 it is called elderly-onset rheumatoid arthritis (EORA) and when it starts earlier, young-onset rheumatoid arthritis (YORA). There are few Latin American studies that compared both groups. The objective of the study was to evaluate differences in the clinical characteristics, evolution and treatment among patients with RA with onset before or after 60years of age. Materials and methods: Observational study of patients with RA attended consecutively in four centers in Argentina. Sociodemographic data, comorbidities, clinical manifestations at diagnosis, presence of rheumatoid factor and/or anti-CCP (cyclic citrullinated peptide) and treatments received were collected. At the last visit, swollen and tender joints, assessment of disease activity by the patient and physician, the presence of radiographic erosions, and functional status using the HAQ-DI were recorded. Results: Fifty-one patients from each group were analyzed. The EORA group had a significantly higher proportion of smokers (58.8% vs. 35.3%, P=.029), cardiovascular history (54.9% vs. 21.6%, P=.001), abrupt onset (49% vs. 29.4%, P=.034) or with symptoms similar to PMR (19.6% vs. 0%, P=.001). Lower methotrexate doses were used in the EORA group: 19mg (15-25) vs. 21.9mg (20-25) (P=.0036) and more frequently did not receive bDMARDs or tsDMARDs. Discussion and conclusions: The benefits of intensive treatment in patients with RA have been described. In this study, the use of DMARDs in the EORA group was less intensive, suggesting that advanced age constitutes a barrier in the therapeutic choice.(AU)

Experiencia Del Abordaje Multidisciplinar Aplicado En El Hospital De Día De Neuropsiquiatría Del Hospital Mare De Déu De La Mercè (Años 2015 A 2022) / [Experience of the Multidisciplinary Approach Applied in the Neuropsychiatry Day Hospital of the Mare De Déu Hospital of La Mercè (Years 2015 to 2022)]

Introducción: El hospital de día de Neuropsiquiatría del Hospital Mare de Déu de la Mercè es un recurso sanitario especializado suprasectorial de régimen diurno, que atiende a personas adultas entre los 18 y 65 años de edad, con deterioro cognitivo debido a un daño cerebral sobrevenido, a uso de sustancias, enfermedad de Huntington o demencias neurodegenerativas de inicio precoz. La duración del ingreso es de 90 días y el objetivo principal es rehabilitador. Las terapias impartidas incluyen estimulación cognitiva, manejo de agenda, adaptación al déficit, manejo de la autonomía, terapia física e inclusión social. El objetivo del manuscrito es presentar la experiencia del abordaje multidisciplinar aplicado durante los años 2015 a 2022, y describir su capacidad resolutiva, entendiéndola como la capacidad para mejorar las habilidades cognitivas, la conducta, el equilibrio físico y la funcionalidad de las personas atendidas.Métodos: La información ha sido obtenida a partir de las valoraciones realizadas según los protocolos de evaluación multidisciplinar del hospital. Se ha realizado una estadística descriptiva y se ha utilizado la prueba t para medias de dos muestras emparejadas para evaluar diferencias significativas entre las valoraciones al ingreso y al alta. La muestra es de 435 personas, con una media de edad de 51.54 años, de las cuales 185 (42.53%) son mujeres. Como instrumentos de medida se han utilizado pruebas de despistaje cognitivo, de evaluación de la conducta, de equilibrio y funcionalidad, y un cuestionario de calidad de vida. Resultados: Se incluyeron un total de 435 personas con los siguientes perfiles diagnósticos: daño cerebral sobrevenido (n = 199), deterioro cognitivo asociado a uso de sustancias (n = 103), enfermedad de Huntington (n = 41), demencias degenerativas de inicio precoz (n = 32), deterioro cognitivo asociado al VIH (n = 2) y deterioro cognitivo no especificado (n = 58). ... (AU)

Introduction: The Neuropsychiatry day hospital of the Mare de Déu de la Mercè Hospital is a specialized suprasectorial daytime health resource, which cares for adults between 18 and 65 years of age, with cognitive impairment due to acquired brain damage, substance use, Huntington's disease, and early-onset neurodegenerative dementias. The duration of admission is 90 days and the main objective is rehabilitation. The therapies provided include cognitive stimulation, agenda management, deficit adaptation, autonomy management, physical therapy and social inclusion. The objective of the manuscript is to present the experience of the multidisciplinary approach applied during the years 2015 to 2022, and describe its resolution capacity, understanding it as the ability to improve the cognitive skills, behavior, physical balance and functionality of the people cared for.Methods: The information has been obtained from the assessments carried out according to the hospital's multidisciplinary evaluation protocols. Descriptive statistics were performed and the t test for means of two paired samples was used to evaluate significant differences between the assessments at admission and at discharge. The sample consists of 435 people, with an average age of 51.54 years, of which 185 (42.53%) were women. Cognitive screening tests, behavioral assessment tests, balance and functionality tests, and a quality of life questionnaire have been used as measurement instruments. Results: A total of 435 people were included with the following diagnostic profiles: acquired brain damage (n = 199), cognitive impairment associated with substance use (n = 103), Huntington's disease (n = 41), early-onset degenerative dementias (n = 32), HIV-associated cognitive impairment (n = 2) and unspecified cognitive impairment (n = 58). ... (AU)

Diferencias neuropsicológicas en la enfermedad de Alzheimer en función de la edad de presentación / Neuropsychological differences in Alzheimer's disease depending on the age of onset

Introducción La enfermedad de Alzheimer (EA) es la forma más común de demencia entre las personas mayores. La enfermedad de Alzheimer de inicio precoz (EAIP) se ha definido como una demencia debido a EA que se presenta antes de la edad arbitrariamente establecida de 65 años. De los pacientes con EA precoz, 50% debutan con síntomas atípicos y muestran alteraciones neuropsicológicas diferentes de aquellos pacientes que debutan más tarde. Estas atipias conllevan un retraso en el diagnóstico y en el inicio del tratamiento. Métodos Seleccionamos retrospectivamente 359 pacientes con diagnóstico de probable demencia por EA. Subdividimos a los pacientes en tres grupos atendiendo a la edad de aparición de la enfermedad: EAIP, menores de 65 años; EA de inicio tardío (EAIT; entre 65 y 80); y EA de inicio muy tardío (EAIMT; definido como edad de inicio mayor de 80 años) y comparamos sus resultados neuropsicológicos. Resultados Los pacientes de EA con una edad de inicio más joven puntuaron peor en atención, función ejecutiva y habilidades visuoespaciales, mientras que los pacientes de mayor edad puntuaron peor en tareas de memoria y lenguaje. Los pacientes de inicio muy tardío se diferenciaron de los de inicio tardío en un mayor deterioro de la fluidez semántica y la denominación. Conclusión Aunque la edad de 65 años podría corresponder a un punto de separación arbitrario entre la forma precoz y la forma de inicio más tardío de la EA, nuestro estudio demuestra que existen diferencias significativas entre estos grupos desde un punto de vista neuropsicológico. Sin embargo, estas diferencias parecen seguir una tendencia lineal con la edad, en lugar de representar cuadros clínicos fundamentalmente distintos. (AU)

Introduction Early-onset Alzheimer's disease (EOAD) has been defined as a dementia due to AD presenting before the arbitrarily established age of 65 (as opposed to late-onset Alzheimer's disease or LOAD). There is still little research about other age sub-groups, the use of so-called senile dementia has been banished, usually including it within the late-onset Alzheimer's dementia. To the extent of our knowledge, there are no studies comparing the neuropsychological features of very-late-onset patients with early and late-onset ones. Methods We retrospectively selected 359 patients with a diagnosis of probable AD dementia. We subdivided patients into three groups attending to the age of onset of the disease: early-onset AD (EOAD; younger than 65 years old), late-onset AD (LOAD; between 65 and 80) and very-late-onset AD (VLOAD; defined here as onset age older than 80), and then we compared their neuropsychological results. Results AD patients with a younger age at onset scored worse on attention, executive function and visuospatial skills, while older-onset patients scored worse in memory tasks and language. Patients with a very-late-onset differed from the late-onset ones in a greater impairment of semantic fluency and naming. Conclusion Although the point of separation between EOAD and later-onset forms of EA at the age of 65 is an arbitrary one, our study shows that there are significant differences between these groups from a neuropsychological point of view. However, these differences do seem to follow a linear trend with age, rather than representing fundamentally distinct clinical pictures. (AU)

Diferencias neuropsicológicas en la enfermedad de Alzheimer en función de la edad de presentación / Neuropsychological differences in Alzheimer's disease depending on the age of onset

Introducción La enfermedad de Alzheimer (EA) es la forma más común de demencia entre las personas mayores. La enfermedad de Alzheimer de inicio precoz (EAIP) se ha definido como una demencia debido a EA que se presenta antes de la edad arbitrariamente establecida de 65 años. De los pacientes con EA precoz, 50% debutan con síntomas atípicos y muestran alteraciones neuropsicológicas diferentes de aquellos pacientes que debutan más tarde. Estas atipias conllevan un retraso en el diagnóstico y en el inicio del tratamiento. Métodos Seleccionamos retrospectivamente 359 pacientes con diagnóstico de probable demencia por EA. Subdividimos a los pacientes en tres grupos atendiendo a la edad de aparición de la enfermedad: EAIP, menores de 65 años; EA de inicio tardío (EAIT; entre 65 y 80); y EA de inicio muy tardío (EAIMT; definido como edad de inicio mayor de 80 años) y comparamos sus resultados neuropsicológicos. Resultados Los pacientes de EA con una edad de inicio más joven puntuaron peor en atención, función ejecutiva y habilidades visuoespaciales, mientras que los pacientes de mayor edad puntuaron peor en tareas de memoria y lenguaje. Los pacientes de inicio muy tardío se diferenciaron de los de inicio tardío en un mayor deterioro de la fluidez semántica y la denominación. Conclusión Aunque la edad de 65 años podría corresponder a un punto de separación arbitrario entre la forma precoz y la forma de inicio más tardío de la EA, nuestro estudio demuestra que existen diferencias significativas entre estos grupos desde un punto de vista neuropsicológico. Sin embargo, estas diferencias parecen seguir una tendencia lineal con la edad, en lugar de representar cuadros clínicos fundamentalmente distintos. (AU)

Introduction Early-onset Alzheimer's disease (EOAD) has been defined as a dementia due to AD presenting before the arbitrarily established age of 65 (as opposed to late-onset Alzheimer's disease or LOAD). There is still little research about other age sub-groups, the use of so-called senile dementia has been banished, usually including it within the late-onset Alzheimer's dementia. To the extent of our knowledge, there are no studies comparing the neuropsychological features of very-late-onset patients with early and late-onset ones. Methods We retrospectively selected 359 patients with a diagnosis of probable AD dementia. We subdivided patients into three groups attending to the age of onset of the disease: early-onset AD (EOAD; younger than 65 years old), late-onset AD (LOAD; between 65 and 80) and very-late-onset AD (VLOAD; defined here as onset age older than 80), and then we compared their neuropsychological results. Results AD patients with a younger age at onset scored worse on attention, executive function and visuospatial skills, while older-onset patients scored worse in memory tasks and language. Patients with a very-late-onset differed from the late-onset ones in a greater impairment of semantic fluency and naming. Conclusion Although the point of separation between EOAD and later-onset forms of EA at the age of 65 is an arbitrary one, our study shows that there are significant differences between these groups from a neuropsychological point of view. However, these differences do seem to follow a linear trend with age, rather than representing fundamentally distinct clinical pictures. (AU)

[Neuropsychological differences in Alzheimer's disease depending on the age of onset]. / Diferencias neuropsicológicas en la enfermedad de Alzheimer en función de la edad de presentación.

INTRODUCTION: Early-onset Alzheimer's disease (EOAD) has been defined as a dementia due to AD presenting before the arbitrarily established age of 65 (as opposed to late-onset Alzheimer's disease or LOAD). There is still little research about other age sub-groups, the use of so-called senile dementia has been banished, usually including it within the late-onset Alzheimer's dementia. To the extent of our knowledge, there are no studies comparing the neuropsychological features of very-late-onset patients with early and late-onset ones. METHODS: We retrospectively selected 359 patients with a diagnosis of probable AD dementia. We subdivided patients into three groups attending to the age of onset of the disease: early-onset AD (EOAD; younger than 65 years old), late-onset AD (LOAD; between 65 and 80) and very-late-onset AD (VLOAD; defined here as onset age older than 80), and then we compared their neuropsychological results. RESULTS: AD patients with a younger age at onset scored worse on attention, executive function and visuospatial skills, while older-onset patients scored worse in memory tasks and language. Patients with a very-late-onset differed from the late-onset ones in a greater impairment of semantic fluency and naming. CONCLUSION: Although the point of separation between EOAD and later-onset forms of EA at the age of 65 is an arbitrary one, our study shows that there are significant differences between these groups from a neuropsychological point of view. However, these differences do seem to follow a linear trend with age, rather than representing fundamentally distinct clinical pictures.

Hidden neuraxial pathology in idiopathic scoliosis: original research / Patologia neuroaxial oculta na escoliose idiopática: pesquisa original / Patología neuroaxial oculta en la escoliosis idiopática: investigación original

ABSTRACT Objective: To evaluate the prevalence of hidden neuraxial pathology (NAP) revealed in idiopathic scoliosis (IS) in neurologically normal patients. Methods: We selected 401 patients with IS who visited our clinic. We identified patterns of NAP and its frequency. In addition to the main part of the study, we assessed the reliability of Magnetic Resonance Imaging (MRI) measuring of the pedicles to plan screw width and trajectory. Results: Among the 401 patients, 53 (13%) presented NAP. The proportion of males in this group was higher (42% vs. 21%, p=0.004), the age of onset of the deformity was lower (8.9±3.77 vs. 9.9±3.93 years old, p=0.045), the left-sided thoracic curve was more frequent (21% vs. 8%, p=0.016), thoracic kyphosis was more pronounced (p=0.070), and the percentage of revision surgeries for deformity progression or non-fusion was higher (13% vs. 5%, p=0.147). Conclusions: The spine MRI should be performed in the early stages of IS, as in some cases of NAP (Chiari, tethered spinal cord), there is the possibility of an early neurosurgical operation that will prevent the development of scoliosis. The main signs of hidden NAP in IS are early-onset IS, IS with left-sided thoracic curve, male gender, and thoracic kyphosis > 40°Cobb. Level of Evidence II; Retrospective Study.

Resumo: Objetivo: Avaliar a prevalência das patologias neuroaxiais ocultas (PNO) reveladas na escoliose idiopática (EI) em pacientes neurologicamente normais. Métodos: Foram selecionados 401 pacientes com EI que visitaram nossa clínica. Identificamos padrões de PNO e sua frequência. Além disso, avaliamos a confiabilidade da medição por ressonância magnética (RM) dos pedículos para planejar a largura e a trajetória do parafuso. Resultados: Entre os 401 pacientes, 53 (13%) apresentaram PNO. A proporção de homens neste grupo foi maior (42% contra 21%, p=0,004), a idade de início da deformidade foi menor (8,9±3,77 contra 9,9±3,93 anos, p=0,045), a curva torácica do lado esquerdo foi mais frequente (21% contra 8%, p=0,016), a cifose torácica foi mais pronunciada (p=0,070) e a porcentagem de cirurgias de revisão para progressão da deformidade ou não fusão foi maior (13% contra 5%, p=0,147). Conclusões: A ressonância magnética da coluna deve ser realizada nos estágios iniciais da EI, pois em alguns casos de PNO (Chiari, medula espinhal amarrada) existe a possibilidade de uma operação neurocirúrgica precoce que impedirá o desenvolvimento de escoliose. Os principais sinais de PNO oculta na EI são: EI de início precoce, EI com curvatura torácica à esquerda, sexo masculino e cifose torácica > 40°Cobb. Nível de Evidência II; Estudo Retrospectivo.

Resumen: Objetivo: Evaluar la prevalencia de las patologías neuroaxiales ocultas (PNO) reveladas en la escoliosis idiopática (EI) en pacientes neurológicamente normales. Métodos: Se seleccionaron 401 pacientes con EI que visitaron nuestra clínica. Se identificaron patrones de PNO y su frecuencia. Además, evaluamos la fiabilidad de la medición por resonancia magnética (RM) de los pedículos para planificar la anchura y la trayectoria del tornillo. Resultados: Entre los 401 pacientes, 53 (13%) presentaron PNO. La proporción de hombres en este grupo fue mayor (42% vs 21%, p=0,004), la edad de aparición de la deformidad fue menor (8,9±3,77 vs 9,9±3,93 años edad, p=0,045), la curva torácica del lado izquierdo se encontró con más frecuencia (21 % frente a 8 %, p=0,016), la cifosis torácica fue más pronunciada (p=0,070) y el porcentaje de cirugías de revisión por progresión de la deformidad o falta de fusión fue mayor (13% vs 5%, p=0,147). Conclusiones: La resonancia magnética de la columna debe realizarse en las primeras etapas de la EI, ya que en algunos casos de PNO (Chiari, médula anclada) existe la posibilidad de una operación neuroquirúrgica temprana que prevendrá el desarrollo de la escoliosis. Los principales signos de PNO oculta en EI son: EI de inicio temprano, EI con curvatura torácica izquierda, sexo masculino y cifosis torácica > 40°Cobb. Nivel de Evidencia II; Estudio Retrospectivo.

Implicaciones de iniciar fármacos antiepilépticos previo a la realización de EEG en primeras crisis epilépticas / Implications of initiating antiseizure drugs prior to the performance of EEG in first epileptic seizures

Introducción: Determinar si la administración de fármacos antiepilépticos (FAE) puede alterar la probabilidad de encontrar anomalías epileptiformes en EEG realizados de forma precoz tras una primera crisis epiléptica (CE). Método: Estudio observacional retrospectivo en el que se incluyó a los pacientes atendidos en urgencias de nuestro centro por una primera CE entre julio del 2014 y noviembre del 2019. Se recogieron los datos clínicos, las características técnicas de adquisición e interpretación de los EEG efectuados durante las primeras 72 h tras la CE y los factores relacionados con la recurrencia. Resultados: Se recogieron 155 pacientes; edad media 48,6 ±22,5 años; 61,3% hombres. El 51% presentó crisis tónico-clónicas de inicio desconocido y el 12% focales con progresión a tónico-clónica bilateral. El 25,2% (39/155) recibió tratamiento con FAE antes de la realización del EEG; en 33 pacientes se administró un FAE no benzodiacepínico y en 6 una benzodiacepina. Se observaron anomalías epileptiformes en 29,7% de los pacientes. La administración previa de FAE no se asoció de forma significativa ni con la probabilidad de detectar anomalías epileptiformes (p = 0,25) ni con el riesgo de recurrencia a los 6 meses (p = 0,63). Conclusiones: La administración de un FAE previo a la realización del EEG precoz tras una primera CE no disminuye la probabilidad de detectar anomalías epileptiformes. Estos hallazgos sugieren que iniciar un FAE de forma inmediata en aquellos pacientes con alto riesgo de recurrencia precoz no implica un menor rendimiento diagnóstico de dicha prueba.(AU)

Introduction: This study aimed to determine whether the administration of antiepileptic drugs (AED) alters the likelihood of detecting epileptiform abnormalities in electroencephalographies (EEG) performed early after a first epileptic seizure. Method: We performed a retrospective, observational study including patients with a first seizure attended at our centre's emergency department between July 2014 and November 2019. We collected clinical data, as well as technical data on the acquisition and interpretation of the EEG performed within the first 72 hours after the seizure, and the factors related with seizure recurrence. Results: We recruited 155 patients with a mean (SD) age of 48.6 (22.5) years; 61.3% were men. Regarding seizure type, 51% presented tonic-clonic seizures of unknown onset and 12% presented focal to bilateral tonic-clonic seizures. Thirty-nine patients (25.2%) received AED treatment before the EEG was performed: 33 received a non-benzodiazepine AED and 6 received a benzodiazepine. Epileptiform abnormalities were observed in 29.7% of patients. Previous administration of AEDs was not significantly associated with the probability of detecting interictal epileptiform abnormalities (P=.25) or with the risk of recurrence within 6 months (P=.63). Conclusions: Administration of AEDs before an early EEG following a first seizure does not decrease the likelihood of detecting epileptiform abnormalities. These findings suggest that starting AED treatment immediately in patients with a high risk of early recurrence does not imply a reduction in the diagnostic accuracy of the test.(AU)

[Factors associated with benzodiazepines dependence in insomnia patients]. / Factores asociados a la dependencia a benzodiacepinas en pacientes con insomnio.

Background: The use of benzodiazepines as a treatment for insomnia can have side effects such as impaired coordination causing falls in adults and even dependence. Objective: To assess the factors associated with dependence on benzodiazepines in patients with insomnia. Methods: Observational, cross-sectional, prospective, and analytical study, at the first level of care. Patients older than 18 years with a diagnosis of insomnia and a benzodiazepine prescription were selected. The dependency was measured with the International Neuropsychiatric Interview. Results: 107 patients were included. Median age 67 years, predominantly female (72%), 74% attended secondary school or more, 71% had more than 3 years of diagnosis, 84% used clonazepam. The 54% presented dependency. In the bivariate analysis, schooling RM 0.392 (95%CI: 0.15-0.96) p = 0.038, moderate and severe clinical insomnia RM 3.618 (95%CI: 1.44-9.08) p = 0.005 and more than 3 years of diagnosis RM 2.428 (95%CI: 1.03-5.71) p = 0.040. In the multivariate model, schooling (p = 0.084), years of diagnosis (p = 0.062) and frequency of consumption (p = 0.065) obtained an R2 of 0.13. Conclusions: Primary schooling showed a lower risk of presenting dependence on benzodiazepines. The risk was increased in those with more than 3 years of diagnosis, and in those with moderate and severe insomnia.

Introducción: el uso de benzodiacepinas como tratamiento para el insomnio puede tener efectos secundarios, como el deterioro de la coordinación que puede provocar caídas en adultos e, incluso, dependencia. Objetivo: evaluar los factores asociados a la dependencia a benzodiacepinas en pacientes con insomnio. Material y métodos: estudio observacional, transversal, prospectivo y analítico, llevado a cabo en el primer nivel de atención. Se seleccionaron pacientes mayores de 18 años con diagnóstico de insomnio y prescripción de benzodiacepina. La dependencia se midió con la Entrevista Neuropsiquiátrica Internacional. Resultados: se incluyeron 107 pacientes, la mediana de edad fue de 67 años, con predominio del sexo femenino (72%), el 74% cursó educación secundaria o más, el 71% tenía más de tres años con diagnóstico de insomnio, el 84% usaba clonazepan. El 54% presentó dependencia. En el análisis bivariado, la escolaridad primaria mostró una razón de momios (RM) de 0.392 (IC95%: 0.15-0.96), p = 0.038; el insomnio clínico moderado y grave RM de 3.618 (IC95%: 1.44-9.08) p = 0.005, y más de tres años de diagnóstico con una RM de 2.428 (IC95%: 1.03-5.71) p = 0.040. En el modelo multivariado, la escolaridad (p = 0.084), los años de diagnóstico (p = 0.062) y la frecuencia de consumo (p = 0.065) obtuvieron una R2 de 0.13. Conclusiones: los pacientes con escolaridad primaria mostraron un menor riesgo de presentar dependencia a benzodiacepinas. El riesgo se incrementó en los pacientes con más de tres años de diagnóstico y en aquellos con insomnio moderado y grave.

Câncer colorretal de início precoce: uma análise de onze anos das características clinicopatológicas em um centro de saúde terciário / Early-onset colorectal cancer: an eleven-year analysis of clinicopathological characteristics at a tertiary healthcare center

ABSTRACT Background: Early-onset colorectal cancer (EO-CRC) incidence has increased significantly worldwide in recent years, and these individuals frequently have advanced disease at the time of diagnosis. This study examines the clinicopathological characteristics of EO-CRC cases diagnosed at an academic healthcare center in Spain. Methods: A retrospective record review study of patients diagnosed with EO-CRC from 2010 to 2021 was performed. Clinical and pathological data were collected. Results: A total of 101 patients were included. The majority of cases (75.3%) were diagnosed in the age group between 40 and 49 years, specifically within the subgroup of 46-49 years. A family history of colorectal cancer was found in 23% of patients. Left-sided tumors were more common (43.6%), and most patients were diagnosed at advanced stages (34.7% at stage III and 32.7% at stage IV). The majority of patients (94.1%) were symptomatic, with rectal bleeding being the most prevalent clinical presentation. The most frequent histological type was moderately differentiated adenocarcinoma (44.6%). KRAS mutant tumors were found in 18.8% and BRAF mutant tumors in 11.9%. 67.3% had microsatellite stability. Tumor recurrence occurred in 24.8% of the patients, while 27.7% of the patients died. Conclusion: From 2010 to 2021, EO-CRC accounted for 3% of all colorectal cancer cases. To improve early diagnosis and treatment, physicians should maintain a high suspicion of red flag symptoms in young patients. To decrease EO-CRC morbidity and mortality, starting diagnostic screening tests at age 45 should be considered.

RESUMO Contexto: A incidência de câncer colorretal de início precoce (CCR-IP) tem aumentado significativamente em todo o mundo nos últimos anos, e esses indivíduos frequentemente apresentam doença avançada no momento do diagnóstico. Este estudo examina as características clinicopatológicas dos casos de CCR-IP diagnosticados em um centro de saúde acadêmico na Espanha. Métodos: Realizado um estudo retrospectivo de revisão de prontuários de pacientes diagnosticados com CCR-IP de 2010 a 2021. Dados clínicos e patológicos foram coletados. Resultados: Foram incluídos um total de 101 pacientes. A maioria dos casos (75,3%) foi diagnosticada na faixa etária entre 40 e 49 anos, especificamente dentro do subgrupo de 46 a 49 anos. Histórico familiar de câncer colorretal foi encontrado em 23% dos pacientes. Tumores do lado esquerdo foram mais comuns (43,6%), e a maioria dos pacientes foi diagnosticada em estágios avançados (34,7% no estágio III e 32,7% no estágio IV). A maioria dos pacientes (94,1%) apresentava sintomas, sendo o sangramento retal a apresentação clínica mais prevalente. O tipo histológico mais frequente foi adenocarcinoma moderadamente diferenciado (44,6%). Tumores com mutação KRAS foram encontrados em 18,8% e tumores com mutação BRAF em 11,9%. 67,3% apresentavam estabilidade de microssatélites. A recorrência do tumor ocorreu em 24,8% dos pacientes, enquanto 27,7% dos pacientes morreram. Conclusão: De 2010 a 2021, o CCR-IP representou 3% de todos os casos de câncer colorretal. Para melhorar o diagnóstico precoce e o tratamento, os médicos devem manter uma alta suspeita de sintomas de alerta em pacientes jovens. Para diminuir a morbidade e a mortalidade do CCR-IP, a consideração de iniciar exames de triagem diagnóstica aos 45 anos deve ser considerada.

Similitudes en el deterioro cognitivo de pacientes con esquizofrenia de inicio reciente y pacientes crónicos: una consideración sobre la hipótesisdel neurodesarrollo / Similarities in cognitive impairment between recent-onset and chronic schizophrenia patients: a consideration for the neurodevelopmental hypothesis

Se ha descrito la presencia de déficits cognitivos en pacientes con esquizofrenia, dichas alteraciones pueden observarse en fases tempranas y crónicas de la enfermedad.Sin embargo, los hallazgos respecto a los déficits en estas fases aún mantienen el debate sobre si la esquizofrenia es una condición neurodegenerativa que cursa con un deterioro continuo o si los déficits permanecen estables, como sugiere la hipótesis del neurodesarrollo. En el presente estudio se compara el rendimiento cognitivo de pacientes con esquizofrenia de inicio reciente (RO) y pacientes crónicos (CH) con la finalidad de contrastar la hipótesis del neurodesarrollo con la perspectiva neurodegenerativa. Método. Se incluyeron 20 participantes de RO (< 5 años desde el primer episodio psicótico) y 30 pacientes de CH (>5 años desde el primer episodio psicótico). Para la evaluación cognitiva se utilizó la Batería Cognitiva Consensuada MATRICS (MCCB), la Prueba Torre de Londres, la Prueba de Clasificación de Tarjetas de Wisconsin y la Prueba de Stroop. Se utilizó ANCOVA para las comparaciones de grupos. Resultados. No hubo diferencias entre los grupos en la mayoría de las pruebas cognitivas. Se observó una diferencia significativa en la prueba de span espacial del MCCB. Conclusiones. Los déficits cognitivos permanecen estables a lo largo del tiempo; nuestros hallazgos son consistentes con la hipótesis del neurodesarrollo de la esquizofreniamás que con el enfoque neurodegenerativo. (AU)

Impairment in attention, memory, processing speed and executive functions have been described in patients with schizophrenia. Such impairments can be observed in early stages of the disease and in chronic patients; discrepancy in findings regarding the cognitive deficits at different stages of the illness keeps the debate about schizophrenia as a neurodegenerative condition which courses with continuous deterioration, or if deficits remain stable, as the neurodevelopmental hypothesis suggests. The aim of the present study was to compare the cognitive performance of recent-onset (RO) and chronic (CH) schizophrenia patients to contrast the neurodevelopmental hypothesis against the neurodegenerative approach. Methods. Twenty RO participants (< 5 years from first psychotic episode) and 30 CH patients (> 5 years from first psychotic episode) were included in the sample. The MATRICS Consensus Cognitive Battery (MCCB), Tower of London test (ToL), Wisconsin Card Sorting Test (WCST) and Stroop Test were used for cognitive evaluation. ANCOVA analysis was performed for group comparisons. Results. No differences between RO and CH patients were identified on most cognitive tests. However, a significant difference was observed in the visual spatial span test from MCCB. Conclusions. We conclude that cognitive deficits remain stable over the course of the disease. Our findings are consistent with the neurodevelopmental hypothesis of schizophrenia rather than the neurodegenerative approach. (AU)

Urgent-start peritoneal dialysis / Diálisis peritoneal aguda

Peritoneal dialysis is an important form of kidney replacement therapy. Most patients presenting with an unplanned, urgent need for dialysis are prescribed haemodialysis, leading to peritoneal dialysis underutilisation. Urgent-start peritoneal dialysis refers to treatment that is commenced within 2 weeks of catheter placement. Urgent-start peritoneal dialysis represents an efficacious, cost-effective alternative to the conventional approach of commencing dialysis. There is a paucity of evidence to guide management, however experience with the technique is increasing. This article overviews the rationale and practical application of urgent-start peritoneal dialysis. (AU)

La diálisis peritoneal es una forma importante de terapia de reemplazo renal. A la mayoría de los pacientes que presentan una necesidad urgente e imprevista de diálisis se les prescribe hemodiálisis, lo que lleva a la infrautilización de la diálisis peritoneal. La diálisis peritoneal de inicio urgente se refiere al tratamiento que se inicia dentro de las 2 semanas posteriores a la colocación del catéter. La diálisis peritoneal de inicio urgente representa una alternativa eficaz y rentable al enfoque convencional de iniciar la diálisis. Hay escasez de evidencia para guiar el manejo, sin embargo, la experiencia con la técnica está aumentando. Este artículo describe la justificación y la aplicación práctica de la diálisis peritoneal de inicio urgente. (AU)

Dual orexin receptor antagonists for the treatment of insomnia: systematic review and network meta-analysis / Antagonistas duais do receptor de orexina para o tratamento da insônia: revisão sistemática e metanálise em rede

Abstract Background Several randomized clinical trials (RCTs) have shown that dual orexin receptor antagonists (DORAs) are effective in the treatment of chronic insomnia. However, the superiority of one particular DORA over the others remains unclear. Objective To perform a network meta-analysis to evaluate the efficacy of different DORAs in patients with chronic insomnia. Methods The Medline, Embase, and Cochrane Central databases were searched for RCTs that compared DORA with placebo in patients ≥ 18 years of age with a diagnosis of insomnia disorder. We pooled outcomes for wake time after sleep onset (WASO), latency to persistent sleep (LPS), total sleep time (TST), and adverse events (AEs). Results We included 10 RCTs with 7,806 patients, 4,849 of whom received DORAs as the intervention. Overall, we found that DORAs were associated with the improvement of all analyzed efficacy outcomes. Concerning TST, an apparent dose-dependent pattern was noticed, with higherdoses relating to a longerTST. Lemborexant 10mg provided the largest reduction in WASO (at month 1) in minutes (standardized mean difference [SMD] = −25.40; 95% confidence interval [95%CI] = −40.02- −10.78), followed by suvorexant 20/15mg (SMD = −25.29; 95%CI = −36.42- −14.15), which also appeared to provide the largest decrease in long-term WASO (SMD = −23.70; 95%CI = −35.89- −11.51). The most frequent AEs were somnolence, nasopharyngitis, and headache, with rates of up to 14.8%. Conclusion Our results suggest that DORAs are associated with greater efficacy when compared with placebo in the treatment of insomnia, a complex 24-hour sleep disorder. Additionally, dosing might play an important role in the management of chronic insomnia.

Resumo Antecedentes Inúmeros ensaios clínicos randomizados (ECRs) têm demonstrado que os antagonistas duais do receptor de orexina (dual orexin receptor antagonists, DORAs, em inglês) são eficazes no tratamento da insônia. Contudo, restam dúvidas quanto à superioridade de um DORA com relação aos outros. Objetivo Realizar uma meta-análise em rede para avaliar a eficácia de diferentes DORAs em pacientes com insônia. Métodos Foram feitas buscas nas bases de dados Medline, Embase e Cochrane Central por ECRs que comparassem DORAs e placebo em pacientes ≥ 18 anos de idade com diagnóstico de insônia. Os seguintes desfechos foram selecionados: tempo desperto após o início do sono (wake time after sleep onset, WASO, em inglês), latência para o sono persistente (latency to persistent sleep, LPS, em inglês), tempo total de sono (total sleep time, TST, em inglês), e efeitos adversos (EAs). Resultados Incluímos 10 ensaios clínicos com 7,806 pacientes, 4,849 dos quais receberam DORAs como intervenção. Os DORAs foram associados à melhoria de todos os desfechos de eficácia analisados. Em relação ao TST, um aparente padrão de dependência da dose foi identificado, com doses maiores se associando a um maior TST. Lemborexant 10 mg proporcionou a maior redução em WASO (no primeiro mês) em minutos (diferença padronizada das médias [standardized mean difference, [SMD], em inglês) = −25.40; intervalo de confiança de 95% [IC95%] = −40.02- −10.78), seguido de suvorexant 20/15mg (SMD = −25.29; IC95% = −36.42- −14.15), o qual também proporcionou a maior diminuição em WASO no longo prazo (SMD = −23.70; IC95% = −35.89- −11.51). Os EAs mais frequentes foram sonolência, nasofaringite e cefaleia, com taxas de até 14.8%. Conclusão Nossos resultados sugerem que os DORAs estão associados a uma maior eficácia quando comparados com placebo no tratamento da insónia, um complexo transtorno do sono de 24 horas. Além disso, a dosagem pode desempenhar um papel importante no manejo da insónia crônica.

Guía práctica para el uso de clozapina en niños/as y adolescentes / Practical guidelines for the use of clozapine in children and adolescents

El uso de clozapina (CZP) en niños/as y adolescentes ha estado históricamente limitado, debido a los efectos adversos y riesgos médicos asociados al fármaco, a pesar de ser una herramienta farmacológica de gran efectividad en la psiquiatría general. A continuación, se presenta una guía clínica con los siguientes objetivos: 1) identificar los criterios de indicación de CZP en niños, niñas y adolescentes (NNA) según la evidencia disponible; 2) entregar algunas directrices a los clínicos y profesionales de salud respecto a la prescripción de CZP y precauciones a tener en consideración en esta población y; 3) entregar algunos datos comparativos del uso de CZP entre población infantojuvenil y población adulta. Todo lo anterior tiene como finalidad poder entregar la información necesaria para que los clínicos no limiten el uso de este fármaco y puedan prescribirlo de acuerdo con la evidencia científica disponible.

The use of clozapine (CZP) in children and adolescents has historically been limited due to the adverse effects and medical risks commonly associated with the drug, despite being a highly effective pharmacological tool in general psychiatry. Below we developed a clinical guideline with the following objectives: 1) identify the indication criteria for CZP in children and adolescents (NNA) according to the available evidence; 2) provide some guidelines to clinicians and health professionals regarding the prescription of CZP and precautions to be taken into account in this population and; 3) provide some comparative data on the use of CZP between the pediatric and adult population. The purpose of the guideline is to provide the necessary information so that clinicians do not limit the use of CLZ when needed and can prescribe it safely and according to the available scientific evidence.

¿Cómo evaluar la sepsis neonatal de inicio precoz? Estudio comparativo de tres estrategias de detección / How to assess early-onset neonatal sepsis? Comparison of three detection strategies

Introducción: La sepsis neonatal de inicio precoz puede causar morbimortalidad importante, sobre todo si se retrasa su identificación. La disminución de su incidencia en las últimas décadas motiva que sea importante encontrar un equilibrio entre reducir las pruebas complementarias y seguir detectando los pacientes afectos. Comparamos 3 estrategias de detección en pacientes con factores de riesgo: E1. Cribado analítico; E2. Calculadora de riesgo de sepsis neonatal; E3. Observación clínica. Pacientes y métodos: Estudio observacional retrospectivo, en recién nacidos con edad gestacional ≥34 semanas y con factores de riesgo o sintomatología compatible con sepsis neonatal de inicio precoz. Se analizaron los resultados de nuestra unidad con cribado analítico (E1) y se comparó con las otras 2 estrategias (E2 y E3) para valorar modificar nuestro protocolo. Resultados: Se incluyeron 754 pacientes cuyos factores de riesgo más frecuentes fueron la rotura prologada de membranas (35,5%) y la colonización materna por Streptococcus agalactiae (38,5%). Las E2 y E3 disminuirían la realización de analíticas (E1 56,8% de los pacientes; E2 9,9%; E3 22,4%; p<0,01), los ingresos hospitalarios (E1 11%; E2 6,9%; E3 7,9%; p<0,01) y la administración de antibioterapia (E1 8,6%; E2 6,7%; E3 6,4%; p<0,01). Trece pacientes se diagnosticaron de sepsis, las cuales se hubieran detectado con E2 y E3, salvo un paciente con bacteriemia asintomática por Enterococcusfaecalis. Ningún paciente con clínica leve y autolimitada en que no se inició antibioterapia, se diagnosticó posteriormente de sepsis. Conclusiones: La observación clínica estrecha parece una opción segura y podría disminuir la realización de pruebas complementarias, la tasa de hospitalización y el uso de antibioterapia innecesaria. Mantener una conducta expectante en pacientes con sintomatología leve y autolimitada en las primeras horas de vida parece no relacionarse con la no identificación de sepsis. (AU)

Introduction: Early-onset neonatal sepsis can cause significant morbidity and mortality, especially if it is not detected early. Given the decrease in its incidence in the past few decades, it is important to find a balance between reducing the use of diagnostic tests and continuing to detect affected patients. We compared 3 detection strategies in patients with risk factors (RFs) for infection: laboratory screening (S1), the neonatal sepsis risk calculator (S2) and clinical observation (S3). Patients and methods: Retrospective observational study in neonates born at 34 weeks or gestation or later and with RFs or symptoms compatible with early-onset neonatal sepsis. We analysed outcomes in our unit with the use of laboratory screening (S1) and compared them with the other two strategies (S2 and S3) to contemplate whether to modify our protocol. Results: The study included 754 patients, and the most frequent RFs were prolonged rupture of membranes (35.5%) and maternal colonization by Streptococcus agalactiae (38.5%). Strategies S2 and S3 would decrease the performance of laboratory tests (S1, 56.8% of patients; S2, 9.9%; S3, 22.4%; P<.01), hospital admissions (S1, 11%; S2, 6.9%; S3, 7.9%; P<.01) and the use of antibiotherapy (S1, 8.6%; S2, 6.7%; S3, 6.4%; P<.01). Sepsis was diagnosed in 13 patients, and it would have been detected with S2 and S3 except in 1 patient who had asymptomatic bacteriemia by Enterococcusfaecalis. No patient with mild and self-limited symptoms in whom antibiotherapy was not started received a diagnosis of sepsis later on. Conclusions: Close clinical observation seems to be a safe option and could reduce the use of diagnostic tests, hospital admission and unnecessary antibiotherapy. The watchful waiting approach in patients with mild and self-limiting symptoms in the first hours post birth does not appear to be associated with failure to identify sepsis. (AU)

Ataxia y neuropatía sensitiva de inicio en la edad adulta como manifestación clínica de mutaciones en el gen POLG / Adult-onset sensory neuropathy and ataxia as a clinical manifestation of POLG gene mutations

Introducción: La ataxia sensitiva es un síntoma frecuente en numerosas patologías neurológicas con causas múltiples y es una manifestación clínica frecuente en enfermedades relacionadas con genes que influyen en el metabolismo mitocondrial, como POLG. El objetivo del presente trabajo es describir las características diferenciales de cuatro pacientes con variantes patógenas en el gen POLG y expresión clínica común en forma de ataxia y neuropatía sensitiva de inicio en la edad adulta. Pacientes y métodos: Se realizó una revisión de las características clínicas de los pacientes portadores de variantes patógenas en el gen POLG de una consulta de enfermedades neuromusculares en un hospital de tercer nivel. Resultados: Se estudió a tres varones y una mujer de edad adulta (edad media: 40 años; 27-46) sin antecedentes familiares reseñables, con una duración de los síntomas de en torno a 10 años. El síntoma que motivó la consulta fue una alteración de la marcha en relación con ataxia sensitiva. Todos los pacientes presentaban anomalías oculomotoras. El estudio neurofisiológico evidenció una neuropatía sensitiva de predominio axonal. La resonancia magnética cerebral mostró atrofia y lesión de la sustancia blanca cerebelosa. La resonancia magnética muscular mostró sustitución grasa en músculos de muslos y gemelos sin un patrón específico. Todos ellos fueron portadores (homocigotos o heterocigotos compuestos) de variantes patógenas en el gen POLG. Conclusiones: El análisis molecular del gen POLG es una posibilidad diagnóstica prioritaria que se debe considerar en casos de ataxia sensitiva de inicio en la edad adulta, especialmente si se asocia a neuropatía sensitiva u oftalmoparesia.(AU)

Introduction: Sensory ataxia is a frequent symptom in numerous neurological pathologies, being a frequent clinical manifestation in diseases related to genes influencing mitochondrial metabolism, such as POLG. The aim is to describe the differential characteristics of four patients with pathogenic variants in the POLG gene with clinical expression in the form of adult-onset ataxia and sensory neuropathy. Patients and methods: We reviewed the clinical features of patients diagnosed with POLG pathogenic variants from a tertiary hospital. Results: Three men and one woman (mean age: 40 years; 27-46) with no family history were studied with symptoms for 10 years. All patients developed a gait disturbance related to sensory ataxia. All patients had oculomotor abnormalities. The neurophysiological study showed a sensory axonal neuropathy. Brain magnetic resonance imaging studies showed atrophy and cerebellar white matter lesion and muscle magnetic resonance imaging showed fatty substitution in thigh and calf muscles without a specific pattern. A molecular study revealed pathogenic variants in the POLG gene. Conclusions: In cases of adult-onset sensory ataxia, the molecular analysis of the POLG gene should be considered, especially if associated with sensory neuropathy or ophthalmoparesis.(AU)

How to assess early-onset neonatal sepsis? Comparison of three detection strategies.

INTRODUCTION: Early-onset neonatal sepsis (EONS) can cause significant morbidity and mortality, especially if it is not detected early. Given the decrease in its incidence in the past few decades, it is important to find a balance between reducing the use of diagnostic tests and continuing to detect affected patients. We compared 3 detection strategies in patients with risk factors (RFs) for infection: laboratory screening (S1), the Neonatal Sepsis Risk Calculator (S2) and clinical observation (S3). PATIENTS AND METHODS: Retrospective observational study in neonates born at 34 weeks of gestation or later and with RFs or symptoms compatible with EONS. We analysed outcomes in our unit with the use of laboratory screening (S1) and compared them with the other two strategies (S2 and S3) to contemplate whether to modify our protocol. RESULTS: The study included 754 patients, and the most frequent RFs were prolonged rupture of membranes (35.5%) and maternal colonization by Streptococcus agalactiae (38.5%). Strategies S2 and S3 would decrease the performance of laboratory tests (S1, 56.8% of patients; S2, 9.9%; S3, 22.4%; P < 0.01), hospital admissions (S1, 11%; S2, 6.9%; S3, 7.9%; P < 0.01) and the use of antibiotherapy (S1, 8.6%; S2, 6.7%; S3, 6.4%; P < 0.01). Sepsis was diagnosed in 13 patients, and it would have been detected with S2 and S3 except in 1 patient who had asymptomatic bacteriemia by Enterococcus faecalis. No patient with mild and self-limited symptoms in whom antibiotherapy was not started received a diagnosis of sepsis later on. CONCLUSION: Close clinical observation seems to be a safe option and could reduce the use of diagnostic tests, hospital admission and unnecessary antibiotherapy. The watchful waiting approach in patients with mild and self-limiting symptoms in the first hours post birth does not appear to be associated with failure to identify sepsis.

Calidad de sueño en docentes en una institución educativa durante la emergencia sanitaria COVID-19, Perú, 2021

Objetivo: La pandemia del COVID-19 afectó la calidad de vida de la población a nivel mundial. Los países tomaron varias medidas de protección para evitar el contagio como el aislamiento social, el teletrabajo y la educación a distancia. A medida que las escuelas cerraron, los maestros se encargaron principalmente de la enseñanza en línea. El objetivo principal fue determinar la calidad de sueño en los docentes de una institución educativa pública en el distrito de Máncora, Perú, durante el aislamiento social en pandemia por COVID-19. Materiales y métodos: Estudio observacional, transversal y prospectivo. Se usó el cuestionario de Índice de Calidad de Sueño de Pittsburgh en 59 docentes de los niveles educativos inicial, primario y secundario que utilizaron la modalidad de educación a distancia de marzo a diciembre del 2021. Resultados: La edad promedio fue 44,3 ± 8,89 años. Las mujeres fueron 64,4 %; los docentes con especialidad, es decir, el área que enseñaba el docente, 55,9 %. Los de nivel secundario fueron el 55,9 %; el nivel primario, 30,5 %, y el nivel inicial, 13,6 %. Los parámetros de calidad de sueño afectados fueron los siguientes: 69,5 % presentaron mala calidad de sueño; 67,8 %, inadecuada latencia de sueño, y 61,00 %, duración de sueño menor de 5 horas. El 27,1 % presentó eficiencia habitual del sueño menor al 65 % y 49,2 % reportó perturbaciones del sueño. Asimismo, 50,8 % usaron medicación hipnótica más de una vez a la semana. Por último, el 39 % presentó severa disfunción diurna. Se encontró asociación entre la calidad de sueño con los componentes calidad subjetiva del sueño, latencia de sueño, duración del sueño, eficiencia habitual del sueño y disfunción diurna. No hubo asociación con el sexo, nivel educativo y especialidad docente. Conclusiones: Los docentes de una institución educativa en Máncora presentaron alta prevalencia de mala calidad de sueño y los componentes más afectados fueron latencia de sueño, disfunción diurna y perturbaciones del sueño.

Objective: The COVID-19 pandemic affected the quality of life of the population worldwide. The countries took several protective measures to avoid contagion, including social isolation, teleworking and distance education. As schools closed, teachers took over primarily online teaching. The study main objective was to determine the sleep quality among teachers of a public educational institution in the district of Máncora, Peru, during the COVID-19 pandemic social isolation. Materials and methods: An observational, cross-sectional and prospective study. The Pittsburgh Sleep Quality Index was used to assess 59 preschool, primary and secondary school teachers who taught through distance education from March to December 2021. Results: The average age was 44.3 ± 8.89 years. Women accounted for 64.4 %, specialist teachers-i.e., those who have expertise in a particular field-55.9 %, secondary school teachers 55.9 %, primary school teachers 30.5 % and preschool teachers 13.6 %. The affected sleep quality parameters were the following: 69.5 % had poor sleep quality, 67.8 % inadequate sleep latency, 61 % sleep duration of less than five hours, 27.1 % habitual sleep efficiency of less than 65 % and 49.2 % sleep disturbances. Moreover, 50.8 % reported using a sleeping medication more than once a week and 39 % severe daytime dysfunction. There was an association between sleep quality and the components subjective sleep quality, sleep latency, sleep duration, habitual sleep efficiency and daytime dysfunction. Nonetheless, there was no association with sex, educational level and teaching specialty. Conclusions: Teachers of an educational institution in Máncora had a high prevalence of poor sleep quality and the most affected components were sleep latency, daytime dysfunction and sleep disturbances.

Pain and late-onset of hidradenitis suppurativa can have a negative influence on occupational status and educational level. A cross-sectional study. / [Artículo traducido] El dolor y la aparición tardía de la hidrosadenitis supurativa pueden tener una influencia negativa en el estatus ocupacional y el nivel educativo. Estudio transversal.

BACKGROUND AND OBJECTIVES: Hidradenitis suppurativa (HS) is a chronic and painful condition with negative impact on daily activity. Little information on the impact of disease-specific factors on educational level and occupational status in hidradenitis suppurativa patients has been reported. We sought to identify how disease-specific factors could influence occupational status and educational level in patients with HS. METHODS: Cross-sectional study of patients with HS seen between September 2017 and September 2018. Disease-specific variables were analyzed to find associations in patients with different educational levels and occupational status. RESULTS: Ninety-eight patients were included. Patients with non-university studies had more frequently ≥ 3 affected areas (22.5% [16/73] vs. 4.8% [1/22], p = 0.049), a higher number of painful days (8.5 [SD 8.8] vs. 4.6 [SD 4.8], p = 0.048) and a higher score on the VAS scale (6.7 [SD 2.8] vs. 5.0 [3.3], p = 0.031). Patients from the inactive group had a significantly increased number of painful days (11.2 [SD 10.4] vs. 5.7 [SD 6.2], p = 0.004). This group had a greater number of patients with a history of depression (61.3% [19/31] vs. 27.4% [17/62], p = 0.002) and a higher mean BMI (32.3 [9.1] vs. 28.4 [6.4], p = 0.016). Late disease onset was significantly associated with being «inactive¼ (26.7% [8/31] vs. 6.5% [4/62], p = 0.026). No significant differences between severity scales of HS and educational level or occupational status were found. LIMITATIONS: cross-sectional and single center study. CONCLUSIONS: Pain, ≥ 3 affected areas, history of depression, higher mean BMI, and late onset of HS, are associated with low education level and inactive occupational status.