Protein Language Models and Machine Learning Facilitate the Identification of Antimicrobial Peptides.

Peptides are bioactive molecules whose functional versatility in living organisms has led to successful applications in diverse fields. In recent years, the amount of data describing peptide sequences and function collected in open repositories has substantially increased, allowing the application of more complex computational models to study the relations between the peptide composition and function. This work introduces AMP-Detector, a sequence-based classification model for the detection of peptides' functional biological activity, focusing on accelerating the discovery and de novo design of potential antimicrobial peptides (AMPs). AMP-Detector introduces a novel sequence-based pipeline to train binary classification models, integrating protein language models and machine learning algorithms. This pipeline produced 21 models targeting antimicrobial, antiviral, and antibacterial activity, achieving average precision exceeding 83%. Benchmark analyses revealed that our models outperformed existing methods for AMPs and delivered comparable results for other biological activity types. Utilizing the Peptide Atlas, we applied AMP-Detector to discover over 190,000 potential AMPs and demonstrated that it is an integrative approach with generative learning to aid in de novo design, resulting in over 500 novel AMPs. The combination of our methodology, robust models, and a generative design strategy offers a significant advancement in peptide-based drug discovery and represents a pivotal tool for therapeutic applications.

Efficacy of myofascial induction compared with its simulation on joint amplitude in people with axial spondylarthritis: Protocol of a randomized controlled clinical trial.

BACKGROUND: Axial spondyloarthritis (AxSpA) produces structural changes that cause alterations in body functions. One tissue that seems to have a predictive role in the etiology and progression of the disease is the soft tissue, particularly the fascia. However, little is known about the use of myofascial induction in people with AxSpA, and clinical evidence from physiotherapy regarding potential strategies is limited. OBJECTIVE: To evaluate the efficacy of myofascial induction compared with its simulation on joint amplitude in people with AxSpA. METHODS: In this randomized controlled parallel superiority clinical trial, 84 people with an AxSpA diagnosis confirmed by a rheumatologist will be randomly assigned to groups: the experimental group or the control group. The experimental group will receive myofascial induction, and the control group will undergo a simulation of the technique. Both groups will receive an examination session and six intervention sessions twice per week for three weeks. A baseline follow-up will be performed immediately after the intervention and four weeks after treatment. CONCLUSION: The results of this study may contribute to a better understanding of the efficacy of myofascial induction for joint mobility in people with AxSpA. The implications of these results have a potential transformative effect on the understanding, analysis, evaluation, and physiotherapeutic treatment of this health condition. TRIAL REGISTRATION: ClinicalTrials.gov NCT04424589. Registered 11 June 2020.

Randomized clinical trial comparing pericapsular nerve group (PENG) block and periarticular local anesthetic infiltration for total hip arthroplasty.

BACKGROUND: This randomized trial compared pericapsular nerve group block and periarticular local anesthetic infiltration in patients undergoing primary total hip arthroplasty. We hypothesized that, compared with pericapsular nerve group block, periarticular local anesthetic infiltration would decrease the postoperative incidence of quadriceps weakness at 3 hours fivefold (ie, from 45% to 9%). METHODS: Sixty patients undergoing primary total hip arthroplasty under spinal anesthesia were randomly allocated to receive a pericapsular nerve group block (n=30) using 20 mL of adrenalized bupivacaine 0.50%, or periarticular local anesthetic infiltration (n=30) using 60 mL of adrenalized bupivacaine 0.25%. Both groups also received 30 mg of ketorolac, either intravenously (pericapsular nerve group block) or periarticularly (periarticular local anesthetic infiltration), as well as 4 mg of intravenous dexamethasone.Postoperatively, a blinded evaluator carried out sensory assessment and motor assessment (knee extension and hip adduction) at 3, 6 and 24 hours. Furthermore, the blinded observer also recorded static and dynamic pain scores at 3, 6, 12, 18, 24, 36 and 48 hours; time to first opioid request; cumulative breakthrough morphine consumption at 24 hours and 48 hours; opioid-related side effects; ability to perform physiotherapy at 6, 24 and 48 hours; as well as length of stay. RESULTS: There were no differences in quadriceps weakness at 3 hours between pericapsular nerve group block and periarticular local anesthetic infiltration (20% vs 33%; p=0.469). Furthermore, no intergroup differences were found in terms of sensory block or motor block at other time intervals; time to first opioid request; cumulative breakthrough morphine consumption; opioid-related side effects; ability to perform physiotherapy; and length of stay. Compared with pericapsular nerve group block, periarticular local anesthetic infiltration resulted in lower static pain scores (at all measurement intervals) and dynamic pain scores (at 3 and 6 hours). CONCLUSION: For primary total hip arthroplasty, pericapsular nerve group block and periarticular local anesthetic infiltration result in comparable rates of quadriceps weakness. However, periarticular local anesthetic infiltration is associated with lower static pain scores (especially during the first 24 hours) and dynamic pain scores (first 6 hours). Further investigation is required to determine the optimal technique and local anesthetic admixture for periarticular local anesthetic infiltration. TRIAL REGISTRATION NUMBER: NCT05087862.

Factores relacionados con absentismo laboral en una compañía minera colombiana / Factors Related to Absenteeism in a Colombian Mining Company / Fatores relacionados ao absenteísmo em uma empresa de mineração colombiana

El absentismo laboral es una condición que afecta cada día a un gran número de empresas y que repercute en los ámbitos económico, social y cultural. Objetivo: Caracterizar el absentismo laboral por causa médica durante 2021 en trabajadores del área operativa de una compañía de extracción de minerales en Antioquia (Colombia). Materiales y métodos: Estudio con enfoque cuantitativo, de tipo descriptivo, retrospectivo para caracterizar el ab-sentismo laboral de una empresa minera, teniendo en cuenta una base de datos suministrada por dicha empresa, en la cual se presentaron los registros de absentismo de los trabajadores de la mina y sus diferentes áreas durante 2021, correspondiente a un total de 1069 incapacidades. Resultados: Los factores asociados con un aumento de la frecuencia del absentismo fueron la antigüedad del trabajador en la empresa, el cargo desempeñado y el área al cual se está adscrito, teniendo así que las causas más frecuentes de absentismo fueron las enfermedades de origen común de tipo respiratorio y traumatismos. Conclusión: El absentismo laboral se encuentra relacionado con el patrón de enfermedad o accidente laboral, y su prevalencia, en cuanto a áreas y sexo, se encuentra relacionada con las características propias de la compañía.

Work absenteeism is a condition that affects a large number of companies every day, generating an economic, social and cultural impact. Objective: To characterize absenteeism due to medical reasons during the year 2021 in workers of the operative area of a mineral extraction company in Antioquia, Colombia. Material and Methods: A quantitative, descriptive, retrospective study was conducted to characterize absenteeism in the operational area of a mining extraction company in Colombia, taking into account a database provided by the company, which presents the records of absenteeism of workers in the mine and its different areas during the period of 2021, corresponding to a total of 1,069 incapacities. Results: The factors associated with an increase in the frequency of absenteeism were the worker's seniority in the company, the position held and the area to which he/she is assigned, thus having that the most frequent causes of absenteeism were common respiratory diseases and traumatisms. Conclusion: It can be concluded that absenteeism is related to the pattern of occupational illness or accident, and that the prevalence of absenteeism in terms of areas and sex is related to the company's own characteristics.

O absenteísmo é uma condição que afeta muitas empresas todos os dias e tem repercussões nas esferas econômica, social e cultural. Objetivo: Caracterizar o absenteísmo por motivos médicos durante 2021 em trabalhadores da área operacional de uma empresa de extração mineral em Antioquia (Colômbia). Materiais e métodos: Estudo quantitativo, descritivo e retrospectivo para caracterizar o absenteísmo em uma empresa de mineração, levando em conta um banco de dados fornecido pela empresa, no qual foram apresentados os registros de absenteísmo dos trabalhadores da mina e de suas diferentes áreas durante 2021, correspondendo a um total de 1069 incapacidades. Resultados: Os fatores associados a um aumento na frequência de absenteísmo foram a antiguidade do trabalhador na empresa, o cargo ocupado e a área para a qual ele foi designado, sendo que as causas mais frequentes de absenteísmo foram doenças respiratórias de origem comum e traumatismos. Conclusão: O absenteísmo está relacionado ao padrão de doença ou acidente de trabalho, e sua pre-valência, em termos de áreas e sexo, está relacionada às características próprias da empresa

Geochemistry and Provenance of Springs in a Baja California Sur Mountain Catchment.

Fractured rock aquifers cover much of Earth's surface and are important mountain sites for groundwater recharge but are poorly understood. To investigate groundwater systematics of a fractured-dominated aquifer in Baja California Sur, Mexico, we examined the spatial patterns of aquifer recharge and connectivity using the geochemistry of springs. We evaluate a range of geochemical data within the context of two endmember hypotheses describing spatial recharge patterns and fracture connectivity. Hypothesis 1 is that the aquifer system is segmented, and springs are fed by local recharge. Hypothesis 2 is that the aquifer system is well connected, with dominant recharge occurring in the higher elevations. The study site is a small <15 km2 catchment. Thirty-four distinct springs and two wells were identified in the study area, and 24 of these sites were sampled for geochemical analyses along an elevation gradient and canyon transect. These analyses included major ion composition, trace element and strontium isotopes, δ18 O and δ2 H isotopes, radiocarbon, and tritium. δ18 O and δ2 H isotopes suggest that the precipitation feeding the groundwater system has at least two distinct sources. Carbon isotopes showed a change along the canyon transect, suggesting that shorter flowpaths feed springs in the top of the transect, and longer flowpaths discharge near the bottom. Geochemical interpretations support a combination of the two proposed hypotheses. Understanding of the connectivity and provenance of these springs is significant as they are the primary source of water for the communities that inhabit this region and may be impacted by changes in recharge and use.

Grado de desajuste entre las características antropométricas y el mobiliario escolar en una muestra de estudiantes españoles de 6 a 12 años: estudio piloto / Degree of mismatch between anthropometric characteristics and school furniture in a sample of Spanish students aged 6-12 years old: A pilot study

Introducción. El mobiliario escolar influye en la postura sedente que adopta el alumnado en el aula, con efectos en su salud y aprendizaje. Por ello, es preciso determinar la existencia de un posible desajuste entre las dimensiones del mobiliario escolar y la antropometría del alumnado, así como realizar una propuesta de tallas en base a la realidad del aula y las normativas de Galicia y la Unión Europea. Población y métodos. Un evaluador experto en antropometría realizó las mediciones de peso, talla, altura poplítea, hombro y codo sentado, con un antropómetro, comparándolas posteriormente con las sillas y mesas utilizadas actualmente. Las técnicas de análisis empleadas fueron: descriptivo (medidas de tendencia central), análisis de la varianza de un factor, prueba t, prueba de chi cuadrado (en software SPSS®) y tamaño del efecto (d de Cohen). El nivel de significación establecido fue de p ≤ 0,05. Resultados. La muestra se compuso de 108 estudiantes españoles de educación primaria (de entre 6 y 12 años). El 91,7 % y el 97,2 % del alumnado emplea, respectivamente, una silla y una mesa que no se ajusta a sus características antropométricas, y utiliza mobiliario con un tamaño superior al que le corresponde. La normativa de tallas de mobiliario que rige actualmente en la población estudiada no es apropiada, al no tener sillas y mesas adecuadas a los primeros cursos de primaria. Conclusiones. Existe un alto grado de desajuste entre el mobiliario y la antropometría del alumnado. Se propone seguir las tallas de la normativa europea, utilizando varias tallas por curso o mobiliario regulable, para adaptarse a las características antropométricas de todo el alumnado.

Introduction. School furniture affects the sitting position of students in the classroom, as well as their health and learning. Therefore, it is necessary to determine the existence of a potential mismatch between school furniture dimensions and students' anthropometric characteristics, as well as to propose dimensions based on classroom actuality and the regulations in place in both Galicia and the European Union. Population and methods. An evaluator with experience in anthropometry measured weight, height, popliteal height, sitting shoulder height, and sitting elbow height using an anthropometer and then compared values with the chairs and desks currently used. Analysis techniques were descriptive (measures of central tendency), single-factor analysis of variance, t test, χ² test (using the SPSS® software), and effect size (Cohen's d test). The significance level was established at p ≤ 0.05.Results. The sample was made up of 108 Spanish children in primary school (aged 6-12 years). Of them, 91.7 % and 97.2 % use, respectively, a chair and a desk that do not adjust to their anthropometric characteristics and use furniture that is larger than what they need. The regulations for furniture dimensions currently in place for the studied population are not adequate because the chairs and desks included are not adequate for the first grades of primary school. Conclusions. There is a high mismatch level between school furniture and students' anthropometric characteristics. We propose the use of the European regulations for furniture dimensions, with varying heights per grade or adjustable furniture that can be adapted to the anthropometric characteristics of all students.

[Pain and cervical disability among public workers who use data visualization display terminals]. / Dolor y discapacidad cervical de los trabajadores públicos usuarios de pantallas de visualización de datos.

Work-related neck/shoulder disorders are considered an important health issue. This study is aimed at establishing the pain and cervical disability patterns of workers with visual display terminals, as well as at determining the factors that mostly affect the onset of a new episode of back pain. A descriptive, correlational study was carried out on a sample of 88 workers who use visual display terminals, of the Ministry of Health (Xunta de Galicia). The workers completed the following questionnaires: "Neck Disability Index Scale," "Visual Analog Scale," "12-item Short Form Health Survey," and an individual postural analysis was conducted. For the comparative analysis, the Student's t-test, and the Mann-Whitney U test were performed. A binary logistic regression analysis was used to extract a predictive model of a cervical pain episode, and 58% reported cervical pain. There were no differences between men and women. The variables that best predict the onset of a new episode of pain are the level of disability, and the quality of physical life. Study results indicate that a worker who uses visual display terminals, with high levels of cervical disability and low values of physical quality of life, is more likely to suffer an episode of back pain.

Los trastornos del cuello-hombro relacionados con el trabajo son un importante problema de salud. El objetivo de este estudio es establecer el patrón de dolor y discapacidad cervical de trabajadores con pantallas de visualización de datos, así como determinar los factores que predominan en la aparición de un nuevo episodio de dolor de espalda. Se realizó un estudio descriptivo-correlacional, en una muestra de 88 trabajadores usuarios de ordenadores de la Consellería de Sanidade (Xunta de Galicia). Los trabajadores respondieron los cuestionarios: "Neck Disability Index", "Escala analógica visual", "12-item Short Form Health Survey" y se realizó un análisis postural. Para el análisis comparativo se realizaron las pruebas T Student y U de Mann-Whitney. Un análisis de regresión logística binaria se utilizó para la extracción de un modelo predictivo de episodio de dolor cervical. El 58% refirieron dolor cervical. No existieron diferencias significativas entre hombres y mujeres. Las variables que mejor predicen la aparición de un nuevo episodio de dolor son el nivel de discapacidad y la calidad de vida física. Los resultados indican que un trabajador con altos niveles de discapacidad cervical y bajos valores de calidad de vida física, tiene mayor probabilidad de sufrir un episodio de dolor.

Degree of mismatch between anthropometric characteristics and school furniture in a sample of Spanish students aged 6-12 years old: A pilot study. / Grado de desajuste entre las características antropométricas y el mobiliario escolar en una muestra de estudiantes españoles de 6 a 12 años: estudio piloto.

Introduction: School furniture affects the sitting position of students in the classroom, as well as their health and learning. Therefore, it is necessary to determine the existence of a potential mismatch between school furniture dimensions and students' anthropometric characteristics, as well as to propose dimensions based on classroom actuality and the regulations in place in both Galicia and the European Union. Population and methods: An evaluator with experience in anthropometry measured weight, height, popliteal height, sitting shoulder height, and sitting elbow height using an anthropometer and then compared values with the chairs and desks currently used. Analysis techniques were descriptive (measures of central tendency), single-factor analysis of variance, t test, χ² test (using the SPSS® software), and effect size (Cohen's d test). The significance level was established at p ≤ 0.05. Results: The sample was made up of 108 Spanish children in primary school (aged 6-12 years). Of them, 91.7 % and 97.2 % use, respectively, a chair and a desk that do not adjust to their anthropometric characteristics and use furniture that is larger than what they need. The regulations for furniture dimensions currently in place for the studied population are not adequate because the chairs and desks included are not adequate for the first grades of primary school. Conclusions: There is a high mismatch level between school furniture and students' anthropometric characteristics. We propose the use of the European regulations for furniture dimensions, with varying heights per grade or adjustable furniture that can be adapted to the anthropometric characteristics of all students.

Introducción. El mobiliario escolar influye en la postura sedente que adopta el alumnado en el aula, con efectos en su salud y aprendizaje. Por ello, es preciso determinar la existencia de un posible desajuste entre las dimensiones del mobiliario escolar y la antropometría del alumnado, así como realizar una propuesta de tallas en base a la realidad del aula y las normativas de Galicia y la Unión Europea. Población y métodos. Un evaluador experto en antropometría realizó las mediciones de peso, talla, altura poplítea, hombro y codo sentado, con un antropómetro, comparándolas posteriormente con las sillas y mesas utilizadas actualmente. Las técnicas de análisis empleadas fueron: descriptivo (medidas de tendencia central), análisis de la varianza de un factor, prueba t, prueba de chi cuadrado (en software SPSS®) y tamaño del efecto (d de Cohen). El nivel de significación establecido fue de p ≤ 0,05. Resultados. La muestra se compuso de 108 estudiantes españoles de educación primaria (de entre 6 y 12 años). El 91,7 % y el 97,2 % del alumnado emplea, respectivamente, una silla y una mesa que no se ajusta a sus características antropométricas, y utiliza mobiliario con un tamaño superior al que le corresponde. La normativa de tallas de mobiliario que rige actualmente en la población estudiada no es apropiada, al no tener sillas y mesas adecuadas a los primeros cursos de primaria. Conclusiones. Existe un alto grado de desajuste entre el mobiliario y la antropometría del alumnado. Se propone seguir las tallas de la normativa europea, utilizando varias tallas por curso o mobiliario regulable, para adaptarse a las características antropométricas de todo el alumnado.

Dolor y discapacidad cervical de los trabajadores públicos usuarios de pantallas de visualización de datos / Pain and cervical disability among public workers who use data visualization display terminals

Resumen Los trastornos del cuello-hombro relacionados con el trabajo son un importante problema de salud. El objetivo de este estudio es establecer el patrón de dolor y discapacidad cervical de trabajadores con pantallas de visualización de datos, así como determinar los factores que predominan en la aparición de un nuevo episodio de dolor de espalda. Se realizó un estudio descriptivo-correlacional, en una muestra de 88 trabajadores usuarios de ordenadores de la Consellería de Sanidade (Xunta de Galicia). Los trabajadores respondieron los cuestionarios: "Neck Disability Index", "Escala analógica visual", "12-item Short Form Health Survey" y se realizó un análisis postural. Para el análisis comparativo se realizaron las pruebas T Student y U de Mann-Whitney. Un análisis de regresión logística binaria se utilizó para la extracción de un modelo predictivo de episodio de dolor cervical. El 58% refirieron dolor cervical. No existieron diferencias significativas entre hombres y mujeres. Las variables que mejor predicen la aparición de un nuevo episodio de dolor son el nivel de discapacidad y la calidad de vida física. Los resultados indican que un trabajador con altos niveles de discapacidad cervical y bajos valores de calidad de vida física, tiene mayor probabilidad de sufrir un episodio de dolor.

Abstract Work-related neck/shoulder disorders are considered an important health issue. This study is aimed at establishing the pain and cervical disability patterns of workers with visual display terminals, as well as at determining the factors that mostly affect the onset of a new episode of back pain. A descriptive, correlational study was carried out on a sample of 88 workers who use visual display terminals, of the Ministry of Health (Xunta de Galicia). The workers completed the following questionnaires: "Neck Disability Index Scale," "Visual Analog Scale," "12-item Short Form Health Survey," and an individual postural analysis was conducted. For the comparative analysis, the Student's t-test, and the Mann-Whitney U test were performed. A binary logistic regression analysis was used to extract a predictive model of a cervical pain episode, and 58% reported cervical pain. There were no differences between men and women. The variables that best predict the onset of a new episode of pain are the level of disability, and the quality of physical life. Study results indicate that a worker who uses visual display terminals, with high levels of cervical disability and low values of physical quality of life, is more likely to suffer an episode of back pain.

Epidemiological and clinical aspects of Guillain-Barré syndrome and its variants.

BACKGROUND: Guillain-Barré syndrome (GBS), an acute polyradiculoneuropathy that occurs because of an abnormal inflammatory response in the peripheral nervous system, is clinically characterized by acute flaccid paresis and areflexia with or without sensory symptoms. This syndrome can lead to disabling or even life-threatening sequelae. OBJECTIVE: This study aimed to present the clinical and epidemiological aspects of GBS in patients admitted to a tertiary-level hospital in the Federal District between January 2013 and June 2019. METHODS: In this observational, cross-sectional and retrospective study, medical records of patients diagnosed with acute inflammatory demyelinating polyradiculoneuropathy, acute motor axonal neuropathy or acute axonal motor-sensitive neuropathy based on electromyographic findings were included, and clinical data were collected retrospectively. RESULTS: A total of 100 patients (63 males and 37 females; ratio, 1.7:1) aged 2-86 years (mean, 36.4 years) were included. The mean annual incidence rate of GBS was 0.54 cases/100,000 inhabitants, with 52 and 49% of the cases occurring between October and March (rainy season) and between April and September (dry season), respectively. The proportions of patients showing each GBS variant were as follows: demyelinating forms, 57%; axonal forms, 39%; and undetermined, 4%. The mean duration of hospitalization was 8-15 days for most patients (38%). During hospitalization, 14% of the patients required mechanical ventilation and 20% experienced infectious complications. CONCLUSION: The findings indicate that there was an increase in the incidence of GBS during the rainy season. Moreover, we did not observe the typical bimodal distribution regarding age at onset.

Características epidemiológicas de los pacientes atendidos por COVID-19 en el Servicio de Emergencia del Hospital Militar Central Luis Arias Schreiber

Objetivo: Determinar las características epidemiológicas de los pacientes atendidos por COVID-19 en el Servicio de Emergencia del Hospital Militar Central Luis Arias Schreiber en el periodo julio a octubre del 2020. Materiales y métodos: Se realizó un estudio observacional, transversal y descriptivo. Fueron evaluados 89 pacientes que tenían un resultado positivo en una prueba molecular y/o rápida para SARS-CoV-2. La información se recogió del reporte diario de los pacientes hospitalizados en el Servicio de Emergencia del hospital en el periodo de julio a octubre de 2020. Los resultados fueron procesados con el paquete estadístico SPSS V 25.0. Resultados: El sexo masculino fue el más afectado por la COVID-19 (84,27 %). El rango de edad con mayor número de casos fue de 50 a 59 años (34,83 %). El porcentaje más alto de muertes se encontró en el grupo de los mayores de 70 años; y el 71,43 % de los fallecidos fueron mujeres. Las comorbilidades se reportaron a partir de los 40 años, y el 67,41 % de pacientes presentó al menos una de ellas. La obesidad fue la comorbilidad más frecuente, seguida por la hipertensión arterial y la diabetes mellitus tipo 2. El 67,41 % de pacientes usaron ventilación no invasiva y la mayoría fueron hospitalizados. El 21,34 % de pacientes requirió ventilación mecánica y el 68,42 % fueron internados en la unidad de cuidados intensivos. Conclusiones: Las características de mayor prevalencia en los pacientes con COVID-19 son el sexo masculino, la edad entre 50 y 59 años y la obesidad. Asimismo, el empleo de la ventilación no invasiva tuvo mejor pronóstico que el uso de la ventilación invasiva.

Objective: To determine the epidemiological characteristics of COVID-19 patients treated at the Emergency Department of the Hospital Militar Central Luis Arias Schreiber from July to October 2020. Materials and methods: A descriptive, observational and cross-sectional study was carried out with 89 patients who tested positive for SARS-CoV-2 on molecular and/or rapid tests. The information was collected from the daily progress report of the patients treated at the hospital's Emergency Department from July to October 2020. The results were processed using the IBM SPSS Statistics V25.0. Results: Males were more likely to test positive for COVID-19 (84.27 %). Most cases occurred in patients aged between 50 and 59 (34.83 %). The highest percentage of deaths was found in patients older than 70 years, out of whom 71.43 % were females. Comorbidities were reported in patients aged 40 and older, out of whom 67.41 % had at least one of them. Obesity was the most frequent comorbidity, followed by hypertension and type 2 diabetes mellitus. Sixty-seven point four one percent (67.41 %) of the patients required non-invasive ventilation and most of them were hospitalized. Twenty-one point three four percent (21.34 %) of the patients required mechanic ventilation and 68.42 % were admitted to the intensive care unit. Conclusions: The most common characteristics of COVID-19 patients are male sex, ages between 50 and 59 years old, and obesity. Additionally, using non-invasive ventilation had a better prognosis than using mechanical ventilation.

Epidemiological and clinical aspects of Guillain-Barré syndrome and its variants / Aspectos epidemiológicos e clínicos da síndrome de Guillain-Barré e suas variantes

Abstract Background: Guillain-Barré syndrome (GBS), an acute polyradiculoneuropathy that occurs because of an abnormal inflammatory response in the peripheral nervous system, is clinically characterized by acute flaccid paresis and areflexia with or without sensory symptoms. This syndrome can lead to disabling or even life-threatening sequelae. Objective: This study aimed to present the clinical and epidemiological aspects of GBS in patients admitted to a tertiary-level hospital in the Federal District between January 2013 and June 2019. Methods: In this observational, cross-sectional and retrospective study, medical records of patients diagnosed with acute inflammatory demyelinating polyradiculoneuropathy, acute motor axonal neuropathy or acute axonal motor-sensitive neuropathy based on electromyographic findings were included, and clinical data were collected retrospectively. Results: A total of 100 patients (63 males and 37 females; ratio, 1.7:1) aged 2-86 years (mean, 36.4 years) were included. The mean annual incidence rate of GBS was 0.54 cases/100,000 inhabitants, with 52 and 49% of the cases occurring between October and March (rainy season) and between April and September (dry season), respectively. The proportions of patients showing each GBS variant were as follows: demyelinating forms, 57%; axonal forms, 39%; and undetermined, 4%. The mean duration of hospitalization was 8-15 days for most patients (38%). During hospitalization, 14% of the patients required mechanical ventilation and 20% experienced infectious complications. Conclusion: The findings indicate that there was an increase in the incidence of GBS during the rainy season. Moreover, we did not observe the typical bimodal distribution regarding age at onset.

RESUMO Introdução: Síndrome de Guillain-Barré (SGB), uma polirradiculoneuropatia aguda que ocorre devido a uma resposta inflamatória anormal no sistema nervoso periférico, é caracterizada clinicamente por paralisia flácida aguda e arreflexia, com ou sem sintomas sensitivos. Essa síndrome pode deixar sequelas incapacitantes ou até ameaçar a vida. Objetivo: Apresentar os aspectos clínicos e epidemiológicos da SGB em pacientes internados em um hospital terciário do Distrito Federal, no período de janeiro/2013 a junho/2019. Métodos: Estudo observacional, transversal e retrospectivo, no qual pacientes com diagnóstico de polirradiculoneuropatia desmielinizante inflamatória aguda, neuropatia axonal motora aguda ou neuropatia axonal sensitivo motora aguda a partir dos achados eletroneuromiográficos foram selecionados e seus dados clínicos coletados retrospectivamente em seus prontuários. Resultados: Um total de 100 pacientes (63 homens e 37 mulheres; proporção de 1,7:1), com idades entre 2-86 anos (média, 36,4 anos), foram incluídos. A taxa média anual de incidência de SGB foi de 0,54 casos/100.000 habitantes, com 52 e 49% dos casos ocorrendo entre outubro e março (período chuvoso) e entre abril e setembro (período seco), respectivamente. A proporção de pacientes que apresentaram cada variante de SGB foi a seguinte: formas desmielinizantes, 57%; formas axonais, 39%; e indeterminado, 4%. A duração média da hospitalização foi de 8‒15 dias para a maioria dos pacientes (38%). Durante a hospitalização, 14% dos pacientes necessitaram de ventilação mecânica e 20% apresentaram complicações infecciosas. Conclusão: Os resultados indicam aumento na incidência de GBS durante a estação chuvosa. Além disso, não observamos a distribuição bimodal típica em relação à idade de início.

Six novel variants in the PKLR gene associated with pyruvate kinase deficiency in Argentinian patients.

BACKGROUND: Pyruvate kinase deficiency (PKD) is a rare recessive congenital hemolytic anemia caused by mutations in the PKLR gene. The disease shows a marked variability in clinical expression. We studied the molecular features of nine unrelated Argentinian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase deficiency. DESIGN AND METHODS: Routine hematologic investigations were performed to rule out other causes of chronic hemolytic anemia. Sanger sequencing and in-sílico analysis were carried out to identify and characterize the genetics variants. RESULTS: Six different novel missense variants were detected among the 18 studied alleles: c.661 G > C (Asp221His), c.956 G > T (Gly319Val), c.1595 G > C (Arg532Pro), c.347 G > A (Arg116Gln), c.1232 G > T (Gly411Val), c.1021G > A (Gly341Ser). Structural implications of amino-acid substitutions were correlated with the clinical phenotypes seen in the probands. CONCLUSIONS: This is the first comprehensive report on molecular characterization of pyruvate kinase deficiency in Argentina and the second from South America that would contribute to our knowledge on the distribution and frequency of PKLR variants in our population but also offer new insights into the interpretation of the effect of PKLR variants and phenotype.

Design of an algorithm for the diagnostic approach of patients with joint pain.

BACKGROUND: Rheumatic diseases are a reason for frequent consultation with primary care doctors. Unfortunately, there is a high percentage of misdiagnosis. OBJECTIVE: To design an algorithm to be used by primary care physicians to improve the diagnostic approach of the patient with joint pain, and thus improve the diagnostic capacity in four rheumatic diseases. METHODS: Based on the information obtained from a literature review, we identified the main symptoms, signs, and paraclinical tests related to the diagnosis of rheumatoid arthritis, spondyloarthritis with peripheral involvement, systemic lupus erythematosus with joint involvement, and osteoarthritis. We conducted 3 consultations with a group of expert rheumatologists, using the Delphi technique, to design a diagnostic algorithm that has as a starting point "joint pain" as a common symptom for the four diseases. RESULTS: Thirty-nine rheumatologists from 18 countries of Ibero-America participated in the Delphi exercise. In the first consultation, we presented 94 items to the experts (35 symptoms, 31 signs, and 28 paraclinical tests) candidates to be part of the algorithm; 74 items (25 symptoms, 27 signs, and 22 paraclinical tests) were chosen. In the second consultation, the decision nodes of the algorithm were chosen, and in the third, its final structure was defined. The Delphi exercise lasted 8 months; 100% of the experts participated in the three consultations. CONCLUSION: We present an algorithm designed through an international consensus of experts, in which Delphi methodology was used, to support primary care physicians in the clinical approach to patients with joint pain. Key Points • We developed an algorithm with the participation of rheumatologists from 18 countries of Ibero-America, which gives a global vision of the clinical context of the patient with joint pain. • We integrated four rheumatic diseases into one tool with one common symptom: joint pain. It is a novel tool, as it is the first algorithm that will support the primary care physician in the consideration of four different rheumatic diseases. • It will improve the correct diagnosis and reduce the number of paraclinical tests requested by primary care physicians, in the management of patients with joint pain. This point was verified in a recently published study in the journal Rheumatology International (reference number 31).

Expression Evolution of Ancestral XY Gametologs across All Major Groups of Placental Mammals.

Placental mammals present 180 million-year-old Y chromosomes that have retained a handful of dosage-sensitive genes. However, the expression evolution of Y-linked genes across placental groups has remained largely unexplored. Here, we expanded the number of Y gametolog sequences by analyzing ten additional species from previously unexplored groups. We detected seven remarkably conserved genes across 25 placental species with known Y repertoires. We then used RNA-seq data from 17 placental mammals to unveil the expression evolution of XY gametologs. We found that Y gametologs followed, on average, a 3-fold expression loss and that X gametologs also experienced some expression reduction, particularly in primates. Y gametologs gained testis specificity through an accelerated expression decay in somatic tissues. Moreover, despite the substantial expression decay of Y genes, the combined expression of XY gametologs in males is higher than that of both X gametologs in females. Finally, our work describes several features of the Y chromosome in the last common mammalian ancestor.

[Activity based costs of different units in a high complexity Chilean hospital]. / Los costos basados en actividades de Unidades Médico Quirúrgica y de Cuidados Medios en un hospital público.

BACKGROUND: Hospitals must have management tools that allow them to fulfil all their requirements with the allocated resources. AIM: To evaluate the number of bed-days according to the discharge diagnosis in a High Complexity Hospital in Chile. MATERIAL AND METHODS: An activity Based Cost (ABC) calculation was used. The stages were gathering of procedures, identification of the resources used, analysis of discharge diagnosis, definition of cost objects, resource cost drivers, cost of procedures, procedures cost drivers and cost of the cost objects that corresponds to bed-day by each medical specialty. Costs were calculated for Medical-Surgical and Intermediate Care units. RESULTS: There were significant differences in costs according to medical specialty when comparing the costs obtained using the Management information system (WinSig) and ABC. Respiratory, Renal and Circulatory-Cardiovascular specialties accounted for the most expensive bed-days. CONCLUSIONS: This study identified bed-day costs and provides disaggregated information about the causes of cost differences between medical specialties.