Miopatías RYR1 en la infancia: correlación fenotipo-genotipo e incidencia / RYR1 myopathies in childhood: phenotype-genotype correlation and incidence

Introducción: Las miopatías relacionadas con el receptor de rianodina de tipo 1 (RYR1-RM) constituyen la categoría más frecuente de miopatías congénitas. La introducción de técnicas genéticas ha cambiado el paradigma diagnóstico y sugiere la prioridad de estudios moleculares sobre biopsias. Este estudio busca explorar las características clinicoepidemiológicas de pacientes con variantes del gen RYR1 en un hospital pediátrico de tercer nivel con el objetivo de ampliar la comprensión de la correlación genotipo-fenotipo en las RYR1-RM. Pacientes y métodos: Estudio observacional, descriptivo y transversal, de pacientes menores de 14 años con síntomas miopáticos y variantes potencialmente patógenas del gen RYR1 entre enero de 2013 y diciembre de 2023, considerando variables como sexo, edad, desarrollo motor, variantes genéticas, patrón de herencia y otras manifestaciones. Todas las variables fueron tabuladas frente a la variante genética. Resultados: De los nueve pacientes incluidos, la incidencia estimada fue de aproximadamente 1/10.000 nacidos vivos. La mediana en el momento del diagnóstico fue de 6 años, con una variabilidad fenotípica significativa. Se observaron síntomas comunes, como debilidad y retraso del desarrollo motor. Las variantes genéticas afectaron al gen RYR1 de manera diversa, y hubo cinco variantes previamente no descritas. La biopsia muscular se realizó en cinco pacientes, en dos de ellos de tipo miopatía central core; en uno, multiminicore; en uno, desproporción congénita de fibras; y en otro, de patrón inespecífico. Conclusiones: Las RYR1-MR de nuestra serie ofrecieron variabilidad fenotípica y de afectación, con una incidencia en nuestra área de en torno a 1/10.000 recién nacidos. La mayoría de los casos fueron varones, de variantes missense dominantes. Aportamos cinco variantes genéticas no descritas con anterioridad.(AU)

Introduction: Ryanodine receptor type 1-related myopathies (RYR1-RM) represent the most prevalent category of congenital myopathies. The introduction of genetic techniques has shifted the diagnostic paradigm, suggesting the prioritization of molecular studies over biopsies. This study aims to explore the clinical and epidemiological characteristics of patients with RYR1 gene variants in a tertiary pediatric hospital, intending to enhance the understanding of the genotype-phenotype correlation in RYR1-RM. Patients and methods: An observational, descriptive, and cross-sectional study was conducted on patients under 14 years old with myopathic symptoms and potentially pathogenic RYR1 gene variants from January 2013 to December 2023. Variables such as gender, age, motor development, genetic variants, inheritance pattern, and other manifestations were considered. All variables were tabulated against the genetic variant. Results: Of the nine included patients, the estimated incidence was approximately 1 in 10,000 live births. The median age at diagnosis was six years, with significant phenotypic variability. Common symptoms such as weakness and delayed motor development were observed. Genetic variants affected the RYR1 gene diversely, including five previously undescribed variants. Muscle biopsy was performed in five patients, revealing central core myopathy in two, multiminicore in one, congenital fiber-type disproportion in one, and a nonspecific pattern in another.(AU)

Target sign in COVID-19, radiological interpretation and diagnostic contribution of digital thoracic tomosynthesis.

INTRODUCTION: Our objectives are: To describe the radiological semiology, clinical-analytical features and prognosis related to the target sign (TS) in COVID-19. To determine whether digital thoracic tomosynthesis (DTT) improves the diagnostic ability of radiography. MATERIAL AND METHODS: Retrospective, descriptive, single-centre, case series study, accepted by our ethical committee. Radiological, clinical, analytical and follow-up characteristics of patients with COVID-19 and TS on radiography and DTT between November 2020 and January 2021 were analysed. RESULTS: Eleven TS were collected in 7 patients, median age 35 years, 57% male. All TS presented with a central nodule and a peripheral ring, and in at least 82%, the lung in between was of normal density. All TS were located in peripheral, basal regions and 91% in posterior regions. TS were multiple in 43%. Contiguous TS shared the peripheral ring. Other findings related to pneumonia were associated in 86% of patients. DTT detected 82% more TS than radiography. Only one patient underwent a CT angiography of the pulmonary arteries, positive for acute pulmonary thromboembolism. Seventy-one per cent presented with pleuritic pain. No distinctive laboratory findings or prognostic worsening were detected. CONCLUSIONS: TS in COVID-19 predominates in peripheral and declining regions and can be multiple. Pulmonary thromboembolism was detected in one case. It occurs in young people, frequently with pleuritic pain and does not worsen the prognosis. DTT detects more than 80 % of TS than radiography.

Global assessment of the knowledge and confidence in managing allergic disorders among primary care pediatricians across Europe: An EAACI task force report.

BACKGROUND: Pediatricians are often the first point of contact for children in Primary Care (PC), but still perceive gaps in their allergy knowledge. We investigated self-perceived knowledge gaps and educational needs in pediatricians across healthcare systems in Europe so that future educational initiatives may better support the delivery of allergy services in PC. METHOD: A multinational survey was circulated to pediatricians who care for children and adolescents with allergy problems in PC by the EAACI Allergy Educational Needs in Primary Care Pediatricians Task Force from February to March 2023. A 5-point Likert scale was used to assess the level of agreement with questionnaire statements. Thirty surveys per country were the cut-off for inclusion and statistical analysis. RESULTS: In this study, 1991 respondents were obtained from 56 countries across Europe and 210 responses were from countries with a cut-off below 30 participants per country. Primary care pediatricians (PCPs) comprised 74.4% of the respondents. The majority (65.3%) were contracted to state or district health services. 61.7% had awareness of guidelines for onward allergy referral in their countries but only 22.3% were aware of the EAACI competencies document for allied health professionals for allergy. Total sample respondents versus PCPs showed 52% and 47% of them have access to allergy investigations in their PC facility (mainly specific IgE and skin prick tests); 67.6% and 58.9% have access to immunotherapy, respectively. The main barrier to referral to a specialist was a consideration that the patient's condition could be diagnosed and treated in this PC facility, (57.8% and 63.6% respectively). The main reasons for referral were the need for hospital assessment, and partial response to first-line treatment (55.4% and 59.2%, 47% and 50.7%, respectively). Learning and assessment methods preference was fairly equally divided between Traditional methods (45.7% and 50.1% respectively) and e-learning 45.5% and 44.9%, respectively. Generalist physicians (GPs) have the poorest access to allergy investigations (32.7%, p = .000). The majority of the total sample (91.9%) assess patients with allergic pathology. 868 (43.6%) and 1117 (46.1%), received allergy training as undergraduates and postgraduates respectively [these proportions in PCPs were higher (45% and 59%), respectively]. PCPs with a special interest in allergology experienced greater exposure to allergy teaching as postgraduates. GPs received the largest amount of allergy teaching as undergraduates. Identifying allergic disease based on clinical presentation, respondents felt most confident in the management of eczema/atopic dermatitis (87.4%) and rhinitis/asthma (86.2%), and least confident in allergen immunotherapy (36.9%) and latex allergy (30.8%). CONCLUSION: This study exploring the confidence of PCPs to diagnose, manage, and refer patients with allergies, demonstrated knowledge gaps and educational needs for allergy clinical practice. It detects areas in need of urgent improvement especially in latex and allergen immunotherapy. It is important to ensure the dissemination of allergy guidelines and supporting EAACI documents since the majority of PCPs lack awareness of them. This survey has enabled us to identify what the educational priorities of PCPs are and how they would like to have them met.

Long-term recurrence of Dupuytren's disease treated with clostridium histolitycum collagenase. Surgical treatment and anatomopathological study.

OBJECTIVE: To present the functional results obtained and the possible surgical difficulties after the surgical treatment of Dupuytren's disease (DD) recurrence in patients previously treated with Clostridium histolyticum (CCH) collagenase. MATERIALS AND METHODS: In this prospective study, 178 patients with DD were treated with CCH from 2011 to 2018; During long-term postoperative follow-up, 34 patients (19.1%) had recurrence of DD. In all patients injected in the IFP the disease recurred; In patients injected in the MCP, recurrence was highest in grade III and IV of the Tubiana classification, with involvement of the 5th finger and the two-finger Y-chord. Fourteen patients (7,8%) required surgery by partial selective fasciectomy due to recurrence of cord DD infiltration. The clinical and functional results of the patients, the difficulty of the surgical technique and the anatomopathological analysis of the infiltrated cords were evaluated in comparison with those of cords and patients who had had no previous CCH treatment. RESULTS: In all patients, cord rupture was achieved after injection, reducing joint contracture. In 14 patients, we observed during the follow-up the existence of DD recurrence that required surgical treatment by selective partial fasciectomy. There were no major difficulties in surgery and good clinical and functional results at 6 months of follow-up. The anatomopathological study of the resected tissue did not present histological alterations with respect to the samples obtained from patients initially treated by selective partial fasciectomy. CONCLUSIONS: Selective fasciectomy after CCH injection does not lead to important operative difficulties, as long as the CCH injection is performed according to the recommendations. There were no histological changes in the tissue after CCH injection. LEVEL OF EVIDENCE: III.

[Bibliometric study and analysis of citation networks of visual screening in primary care]. / Estudio bibliométrico y análisis de redes de citación de los screening visuales en atención primaria.

AIM: Screenings make it possible to detect anomalies that can be treated and identify patients who require referral to a specialist. The objective is to identify the different areas of research and determine the most cited publications on screening in primary care. METHODS: An analysis of publications and visualization of citation networks has been carried out using the Citation Network Explorer software. The bibliographic search was carried out with the Web of Science (WOS) database using the search term: "screening AND (vision OR eye OR ocular OR visual)". RESULTS: We analyzed 16707 publications in all fields, 23919 citation networks have been found. The number of publications has increased, with 2021 being the year with the highest number. The majority are scientific articles and the predominant language is English. The most cited article is a global meta-analysis on the prevalence of glaucoma, showing the importance of screening for its early detection since it is essential to avoid blindness. Using the clustering function we found 8 groups with a significant number of publications where we have bibliography on certain eye diseases: glaucoma, diabetic retinopathy, pediatric amblyopia, keratoconus and dry eye. CONCLUSIONS: The main areas of study in relation to screening are the detection of diseases such as glaucoma, retinopathy of prematurity, keratoconus and dry eye. As well as the detection through visual analysis of childhood amblyopia and vision loss in elderly patients. It also gives importance to performing ocular motility tests in problems of acquired brain damage.

[RYR1 myopathies in childhood: phenotype-genotype correlation and incidence]. / Miopatías RYR1 en la infancia: correlación fenotipo-genotipo e incidencia.

INTRODUCTION: Ryanodine receptor type 1-related myopathies (RYR1-RM) represent the most prevalent category of congenital myopathies. The introduction of genetic techniques has shifted the diagnostic paradigm, suggesting the prioritization of molecular studies over biopsies. This study aims to explore the clinical and epidemiological characteristics of patients with RYR1 gene variants in a tertiary pediatric hospital, intending to enhance the understanding of the genotype-phenotype correlation in RYR1-RM. PATIENTS AND METHODS: An observational, descriptive, and cross-sectional study was conducted on patients under 14 years old with myopathic symptoms and potentially pathogenic RYR1 gene variants from January 2013 to December 2023. Variables such as gender, age, motor development, genetic variants, inheritance pattern, and other manifestations were considered. All variables were tabulated against the genetic variant. RESULTS: Of the nine included patients, the estimated incidence was approximately 1 in 10,000 live births. The median age at diagnosis was six years, with significant phenotypic variability. Common symptoms such as weakness and delayed motor development were observed. Genetic variants affected the RYR1 gene diversely, including five previously undescribed variants. Muscle biopsy was performed in five patients, revealing central core myopathy in two, multiminicore in one, congenital fiber-type disproportion in one, and a nonspecific pattern in another. CONCLUSIONS: RYR1-RM in our series exhibited phenotypic and involvement variability, with an incidence in our area of around 1 in 10,000 live births. Most cases were male, with dominant missense variants. We contribute five previously undescribed genetic variants.

TITLE: Miopatías RYR1 en la infancia: correlación fenotipo-genotipo e incidencia.Introducción. Las miopatías relacionadas con el receptor de rianodina de tipo 1 (RYR1-RM) constituyen la categoría más frecuente de miopatías congénitas. La introducción de técnicas genéticas ha cambiado el paradigma diagnóstico y sugiere la prioridad de estudios moleculares sobre biopsias. Este estudio busca explorar las características clinicoepidemiológicas de pacientes con variantes del gen RYR1 en un hospital pediátrico de tercer nivel con el objetivo de ampliar la comprensión de la correlación genotipo-fenotipo en las RYR1-RM. Pacientes y métodos. Estudio observacional, descriptivo y transversal, de pacientes menores de 14 años con síntomas miopáticos y variantes potencialmente patógenas del gen RYR1 entre enero de 2013 y diciembre de 2023, considerando variables como sexo, edad, desarrollo motor, variantes genéticas, patrón de herencia y otras manifestaciones. Todas las variables fueron tabuladas frente a la variante genética. Resultados. De los nueve pacientes incluidos, la incidencia estimada fue de aproximadamente 1/10.000 nacidos vivos. La mediana en el momento del diagnóstico fue de 6 años, con una variabilidad fenotípica significativa. Se observaron síntomas comunes, como debilidad y retraso del desarrollo motor. Las variantes genéticas afectaron al gen RYR1 de manera diversa, y hubo cinco variantes previamente no descritas. La biopsia muscular se realizó en cinco pacientes, en dos de ellos de tipo miopatía central core; en uno, multiminicore; en uno, desproporción congénita de fibras; y en otro, de patrón inespecífico. Conclusiones. Las RYR1-MR de nuestra serie ofrecieron variabilidad fenotípica y de afectación, con una incidencia en nuestra área de en torno a 1/10.000 recién nacidos. La mayoría de los casos fueron varones, de variantes missense dominantes. Aportamos cinco variantes genéticas no descritas con anterioridad.

Photocatalytic degradation of acid yellow 36 with calcined titania-hydroxyapatite-cuo xerogels.

Advanced oxidation processes (AOP), using semiconductor (SC) and hydroxyapatite (HA) composites, are promising due to the synergy of photocatalytic and adsorption properties. Still, dye removal efficiency of composites based on HA-SC remains low, because most of the research reported consider single SC materials. In this work, nanocrystalline xerogels of titanium oxide (TiO2) with copper oxide (CuO) and HA were synthesized by the sol-gel process. HA was obtained by the precipitation method without heat treatment and calcined in the range of 200-1000 °C. TiO2 and copper precursors were added to a sol containing HA in a 12:1 mol ratio, obtaining HA-TiO2 and HA-CuO-TiO2 nanomaterials. The xerogels were characterized by X-ray diffraction, scanning electron microscopy, emission field scanning electron microscopy and photoresponse. Their performance in the photocatalytic discoloration of an aqueous solution acid yellow dye 36 (AY36) was evaluated, using visible and UV light. The best discoloration was achieved with HA-CuO-TiO2 xerogels with HA calcined at 600 °C, showing a degradation kinetic constant of 0.24 min-1. In contrast, HA-TiO2 materials showed little or no photocatalytic activity, but strong dye adsorption/desorption. The thermal treatment of HA determines the filament-like morphology and degree of compaction of the nanomaterials, which are relevant in the crystallite size and sensitization of the SC matrix. Further studies must address the surface chemistry and rectifying properties of the best SC composite to have a more complete understanding of the mechanisms involved.

Evaluation of the incorporation of an IOTA-ADNEX model in the discrimination of adnexal masses in our third-level hospital centre, taking into account the menopausal status of patients. Five years of experience / Evaluación de la incorporación del IOTA-ADNEX model en la discriminación de las masas anexiales en nuestro centro hospitalario de tercer nivel teniendo en cuenta el estado menopáusico en la predicción de malignidad. Cinco años de experiencia

Objective: The objectives were to estimate the performance of the IOTA-ADNEX model test after its incorporation into the ultrasound tests of our third-grade hospital gynecology service, as well as to assess whether its capacity of accuracy is modified when taking into account the patient's menopausal status. Methods: A cross-sectional study was conducted to clinically evaluate the diagnostic performance of the IOTA-ADNEX model test, which was performed between January 2016 and December 2021. The study included 573 women with an adnexal injury who underwent surgical excision within 180 days after ultrasound diagnosis and histological confirmation (gold standard). After the ultrasound exam, the injuries were classified using the ADNEX model. The study estimated the area under the receiver-operating-characteristics curve (AUC) of the ADNEX model for classifying between benign and malignant adnexal masses and compared the performance by menopausal state. Sensitivity and specificity were determined for different cut-off points. Results: Out of the 573 women, 183 (31.9%) had a malignant tumor. The AUC of the ADNEX model for differentiating between benign and malignant adnexal masses at the time of ultrasound examination was 0.92 and the best malignancy threshold, detected by Youden index, was 22.5%. At this cut-off, the sensitivity of the ADNEX model was 91.8% and the specificity was 76.4%. However, it varies according to menopausal status: in the group of pre-menopausal patient, sensitivity was 86.1% (95% CI, 85.4%–86.8%) and specificity was 81.3% (95% CI, 85.4%–86.8%). In the postmenopausal group, sensitivity was 96.1% (95% CI, 95.6%–96.7%) and specificity was 68.5% (95% CI, 68.1%–68.8%)...(AU)

Objetivo: Los objetivos eran estimar el rendimiento del test IOTA ADNEX model después de su incorporación en el estudio ecográfico en nuestro servicio de ginecología, en un hospital de tercer nivel, así como evaluar si su capacidad de precisión se modifica al tener en cuenta el estado menopáusico de la paciente. Método: Se llevó a cabo un estudio transversal para evaluar clínicamente el rendimiento diagnóstico del test IOTA ADNEX model, el cual se realizó entre enero de 2016 y diciembre de 2021. El estudio incluyó a 573 mujeres con una lesión anexial que se sometieron a tratamiento quirúrgico en un plazo de 180 días después del diagnóstico por ecografía y confirmación histológica (gold standard). Después de realizar la ecografía, las lesiones fueron clasificadas utilizando el modelo ADNEX. El estudio estimó el área bajo la curva (AUC) del modelo ADNEX para diferenciar entre masas anexiales benignas y malignas, y se comparó el rendimiento según el estado menopáusico. Se determinó la sensibilidad y la especificidad para diferentes puntos de corte. Resultados: De las 573 mujeres, 183 (31,9%) tenían un tumor maligno. El AUC del modelo ADNEX para diferenciar entre masas anexiales benignas y malignas en el momento del examen ecográfico fue de 0,92 y el umbral de malignidad óptimo, detectado por el índice de Youden, fue del 22,5%. Con este punto de corte, la sensibilidad (SE) del modelo ADNEX fue del 91,8% y la especificidad (SP) fue del 76,4%. Sin embargo, esto varía según el estado menopáusico: en el grupo de pacientes premenopáusicas, la sensibilidad fue del 86,1% (IC del 95%: 85,4-86,8%) y la especificidad fue del 813% (IC del 95%: 85,4-86,8%). En el grupo de pacientes posmenopáusicas, la sensibilidad fue del 96,1% (IC del 95%: 95,6-96,7%) y la especificidad fue del 68,5% (IC del 95%: 68,1-68,8%)...(AU)

Influence of laparoscopic surgery on the outcomes of radical cystectomy within a multimodal rehabilitation protocol.

INTRODUCTION AND OBJECTIVE: The implementation of Enhanced Recover After Surgery (ERAS) multimodal rehabilitation protocols in radical cystectomy has shown to improve outcomes in hospital stay and complications. The aim of this analysis is to evaluate the impact of laparoscopic surgery on radical cystectomy within a multimodal rehabilitation program. MATERIAL AND METHODS: The study was carried out in a third level center between 2011 and 2020 including patients with bladder cancer submitted to radical cystectomy according to an ERAS (Enhanced Recovery After Surgery) protocol and the Spanish Multimodal Rehabilitation Group (GERM) with 20 items to be fulfilled. RESULTS: A total of 250 radical cystectomies were performed throughout the study period, 42.8% by open surgery (OS) and 57.2% by laparoscopic surgery (LS). The groups are comparable in demographic and clinical variables (p > 0.05). Operative time was longer in the LS group (248.4 ±â€¯55.0 vs. 286.2 ±â€¯51.9 min; p < 0.001). However, bleeding was significantly lower in the LS group (417.5 ±â€¯365.7 vs. 877.9 ±â€¯529.7 cc; p < 0.001), as was the need for blood transfusion (33.6% vs. 58.9%; p < 0.001). Postoperative length of stay (11.5 ±â€¯10.5 vs. 20.1 ±â€¯17.2 days; p < 0.001), total and major complications were also significantly lower in this group (LS). The readmission rate was lower in the LS group but not significantly (36.4% vs. 29.4%; p = 0.237). The difference between 90-day mortality in both groups was not statistically significant (2.8% LS vs. 4.3% OS; p = 0.546). The differences were maintained in the multivariate models. CONCLUSIONS: Laparoscopic surgery within a multimodal rehabilitation program increases operative time but significantly decreases intraoperative bleeding, transfusion requirements, postoperative length of stay, and complications.

ANÁLISIS DE LA ADECUACIÓN DEL APORTE NUTRICIONAL A LA META CALÓRICA Y PROTEICA EN PACIENTES CON NUTRICIÓN ENTERAL EXCLUSIVA INTERNADOS EN UN HOSPITAL PÚBLICO PEDIÁTRICO DE ALTA COMPLEJIDAD / ANALYSIS OF ADEQUACY OF THE NUTRITIONAL CONTRIBUTION TO THE CALORIE GOAL AND PROTEIN IN PATIENTS WITH ENTERAL NUTRITION EXCLUSIVE BOARDING SCHOOLS IN A PUBLIC HOSPITAL PEDIATRIC HIGH COMPLEXITY

La malnutrición en los pacientes hospitalizados representa un importante problema sanitario asociado a una mayor tasa de complicaciones con un incremento de la morbimortalidad

Malnutrition in hospitalized patients represents a significant health problem associated with an increased rate of complications and higher morbidity and mortality

[Bilateral vocal cord paralysis with acute airway obstruction and urgent tracheotomy in a patient with an acute vertebrobasilar stroke]. / Parálisis bilateral de las cuerdas vocales con obstrucción aguda de la vía aérea y traqueotomía urgente en una paciente con ictus vertebrobasilar agudo.

INTRODUCTION: Vertebrobasilar stroke can be a diagnostic challenge. Bilateral vocal cord paralysis is very rare as a manifestation of acute stroke, yet it is potentially life-threatening because of the possibility of acute airway obstruction. No cases of bilateral vocal cord paralysis have been reported as a presenting symptom of acute stroke of mixed central and peripheral neurological aetiology. CASE REPORT: An 88-year-old woman with dysphonia resulting from paralysis of the right vocal cord following a thyroidectomy presented with sudden onset of vertigo, dysmetria and mild dysarthria (National Institutes of Health Stroke Scale: 2) associated with arterial hypertension. An urgent brain computed tomography (CT) scan evidenced distal occlusive thrombosis of the left vertebral artery without established ischaemia. Due to the improvement of symptoms achieved with control of her blood pressure, revascularisation therapy was not performed. Four hours later, the patient suddenly developed inspiratory stridor and severe respiratory failure due to bilateral vocal cord paralysis with complete airway obstruction. An urgent tracheotomy was performed, which resulted in an improvement in her breathing. A control brain CT scan performed at 24 hours showed established infarction in the left hemicerebellum and lateral medullary region, consistent with the territory of the left posterior inferior cerebellar artery. CONCLUSION: Our case illustrates the possibility of the rare occurrence of acute bilateral vocal cord paralysis in the context of acute stroke in conjunction with chronic peripheral involvement of the recurrent laryngeal nerve. Although exceptional, it exemplifies the potential risk associated with vertebrobasilar strokes. A more aggressive reperfusion therapy may be appropriate in these cases, despite an initially mild deficit, because of the possibility of progression to life-threatening complications.

TITLE: Parálisis bilateral de las cuerdas vocales con obstrucción aguda de la vía aérea y traqueotomía urgente en una paciente con ictus vertebrobasilar agudo.Introducción. El ictus vertebrobasilar puede suponer un reto diagnóstico. La parálisis bilateral de las cuerdas vocales como manifestación de ictus agudo es muy rara, pero potencialmente mortal, por la posibilidad de obstrucción aguda de la vía aérea. No hay casos descritos de parálisis bilateral de las cuerdas vocales como presentación de ictus agudo de etiología neurológica mixta central y periférica. Caso clínico. Mujer de 88 años con disfonía secuelar a parálisis de la cuerda vocal derecha postiroidectomía que presentó un cuadro brusco de vértigo, dismetría y disartria leve (National Institutes of Health Stroke Scale: 2) asociado a hipertensión arterial. La tomografía computarizada cerebral urgente demostró trombosis distal oclusiva de la arteria vertebral izquierda sin isquemia establecida. Por mejoría sintomática con control tensional, no se realizó terapia de revascularización. Cuatro horas después, la paciente desarrolló de forma brusca estridor inspiratorio e insuficiencia respiratoria grave por parálisis bilateral de las cuerdas vocales con obstrucción completa de la vía aérea. Se realizó una traqueotomía urgente con mejoría respiratoria. Una tomografía computarizada cerebral de control a las 24 horas mostró un infarto establecido en el hemicerebelo izquierdo y la región bulbar lateral, congruente con territorio de la arteria cerebelosa posterior inferior izquierda. Conclusión. Nuestro caso ilustra la posibilidad de la rara aparición de una parálisis bilateral aguda de las cuerdas vocales en el contexto de un ictus agudo junto con una afectación periférica crónica del nervio recurrente laríngeo. Aunque es excepcional, ejemplifica el potencial riesgo asociado a los ictus vertebrobasilares. Un tratamiento más agresivo de reperfusión podría ser adecuado en estos casos, pese a un déficit inicialmente leve, por la posibilidad de progresar a complicaciones vitales.

Parálisis bilateral de las cuerdas vocales con obstrucción aguda de la vía aérea y traqueotomía urgente en una paciente con ictus vertebrobasilar agudo / Bilateral vocal cord paralysis with acute airway obstruction and urgent tracheotomy in a patient with an acute vertebrobasilar stroke

Introducción El ictus vertebrobasilar puede suponer un reto diagnóstico. La parálisis bilateral de las cuerdas vocales como manifestación de ictus agudo es muy rara, pero potencialmente mortal, por la posibilidad de obstrucción aguda de la vía aérea. No hay casos descritos de parálisis bilateral de las cuerdas vocales como presentación de ictus agudo de etiología neurológica mixta central y periférica. Caso clínico Mujer de 88 años con disfonía secuelar a parálisis de la cuerda vocal derecha postiroidectomía que presentó un cuadro brusco de vértigo, dismetría y disartria leve (National Institutes of Health Stroke Scale: 2) asociado a hipertensión arterial. La tomografía computarizada cerebral urgente demostró trombosis distal oclusiva de la arteria vertebral izquierda sin isquemia establecida. Por mejoría sintomática con control tensional, no se realizó terapia de revascularización. Cuatro horas después, la paciente desarrolló de forma brusca estridor inspiratorio e insuficiencia respiratoria grave por parálisis bilateral de las cuerdas vocales con obstrucción completa de la vía aérea. Se realizó una traqueotomía urgente con mejoría respiratoria. Una tomografía computarizada cerebral de control a las 24 horas mostró un infarto establecido en el hemicerebelo izquierdo y la región bulbar lateral, congruente con territorio de la arteria cerebelosa posterior inferior izquierda. Conclusión Nuestro caso ilustra la posibilidad de la rara aparición de una parálisis bilateral aguda de las cuerdas vocales en el contexto de un ictus agudo junto con una afectación periférica crónica del nervio recurrente laríngeo. Aunque es excepcional, ejemplifica el potencial riesgo asociado a los ictus vertebrobasilares. Un tratamiento más agresivo de reperfusión podría ser adecuado en estos casos, pese a un déficit inicialmente leve, por la posibilidad de progresar a complicaciones vitales. (AU)

INTRODUCTION Vertebrobasilar stroke can be a diagnostic challenge. Bilateral vocal cord paralysis is very rare as a manifestation of acute stroke, yet it is potentially life-threatening because of the possibility of acute airway obstruction. No cases of bilateral vocal cord paralysis have been reported as a presenting symptom of acute stroke of mixed central and peripheral neurological aetiology. CASE REPORT An 88-year-old woman with dysphonia resulting from paralysis of the right vocal cord following a thyroidectomy presented with sudden onset of vertigo, dysmetria and mild dysarthria (National Institutes of Health Stroke Scale: 2) associated with arterial hypertension. An urgent brain computed tomography (CT) scan evidenced distal occlusive thrombosis of the left vertebral artery without established ischaemia. Due to the improvement of symptoms achieved with control of her blood pressure, revascularisation therapy was not performed. Four hours later, the patient suddenly developed inspiratory stridor and severe respiratory failure due to bilateral vocal cord paralysis with complete airway obstruction. An urgent tracheotomy was performed, which resulted in an improvement in her breathing. A control brain CT scan performed at 24 hours showed established infarction in the left hemicerebellum and lateral medullary region, consistent with the territory of the left posterior inferior cerebellar artery. CONCLUSION. Our case illustrates the possibility of the rare occurrence of acute bilateral vocal cord paralysis in the context of acute stroke in conjunction with chronic peripheral involvement of the recurrent laryngeal nerve. Although exceptional, it exemplifies the potential risk associated with vertebrobasilar strokes. A more aggressive reperfusion therapy may be appropriate in these cases, despite an initially mild deficit, because of the possibility of progression to life-threatening complications. (AU)

A liquid metal dropper for experiments on the wettability of liquid metals on plasma facing components.

A liquid metal dropper has been developed as a part of the Ion-Gas-Neutral Interactions with Surfaces 2 (IGNIS-2) facility at The Pennsylvania State University. The dropper has the capability of directly applying drops to candidate plasma facing materials for nuclear fusion reactors to enable measurements of their liquid metal wetting properties. The results presented here are specific to the use of lithium in the dropper. This paper discusses the design choices of the liquid metal dropper and its chamber, including the heating and temperature control and the dropper's motorized operation. Lithium drops of masses ranging from 0.05 g up to 0.13 g, equivalent to drop diameters between 5.6 mm to 1 cm, have been consistently dispensed by the dropper. A new algorithm is developed and used to automate the analysis of the contact angle between the liquid drops and substrate material for efficient analysis of video data recorded to study the wetting properties of candidate plasma-facing components.

Percepción y prioridades respecto al proceso de consentimiento informado quirúrgico; un análisis mediante métodos mixtos

Objetivo: Identificar las principales preocupaciones antes y después de realizarse un procedimiento quirúrgico, e identificar diferencias basadas en género, edad y nivel de escolaridad. Material y Método: Mediante un muestreo no probabilístico incidental se aplicaron 201 encuestas semiestructuradas a personas en la sala de espera del HSJD. Las respuestas fueron procesadas mediante un análisis mixto donde se organizaron categorías por unidades de significancia y se ordenaron de forma decreciente para luego comparar según edad, género y escolaridad. Resultados: Respecto a los aspectos que las personas consideran relevante conocer previo a la cirugía, 4 categorías concentran el 71 % del total: 1. Riesgos, complicaciones y secuelas, 2. Explicación del procedimiento, 3. Beneficios y pronóstico, 4. Cuidados y evaluaciones previas. En relación con lo que le gustaría que le explicaran después, se prioriza: 1. Conocer los resultados del procedimiento (19,3%), 2. Control, derivaciones y cuidados paliativos (15%), 3. Tiempo de recuperación (13,7%). Diferencias significativas: una mayor necesidad de acompañamiento y explicación de la patología expresada por hombres, el interés por conocer y los aspectos relacionados con funcionalidad postoperatoria en personas entre 18-65 años, el interés de conocer los cuidados y evaluaciones previas, conocer los resultados del procedimiento, los cuidados de la herida y la funcionalidad posoperatoria según nivel educacional. Discusión y conclusión: Existen variaciones significativas en contenido prioritario según edad, género y nivel educacional. Finalmente, el presente artículo proporciona evidencia en cuanto a las principales prioridades de pacientes en el sistema público chileno para el consentimiento informado.

Aim: To identify the main concerns before and after undergoing a surgical procedure, and to identify differences based on gender, age and level of education. Material and Method: 201 semi-structured surveys were administered to people in the waiting room of the HSJD by means of incidental non-probabilistic sampling. The responses were processed by means of a mixed analysis in which categories were organized by units of significance and ordered in decreasing order to then compare according to age, gender and schooling. Results: Regarding the aspects that people considered relevant to know before surgery, 4 categories accounted for 71% of the total: 1. Risks, complications and sequels, 2. Explanation of the procedure, 3. Benefits and prognosis, 4. Prior care and evaluations. In relation to what you would like to have explained to you afterwards, priority is given to: 1. knowing the results of the procedure (19.3%), 2. Monitoring, referrals and palliative care (15%), 3. Recovery time (13.7%). Significant differences: a greater need for accompaniment and explanation of the pathology expressed by men, interest in knowing and aspects related to postoperative functionality in persons between 18-65 years of age, interest in knowing the previous care and evaluations, knowing the results of the procedure, wound care and postoperative functionality according to educational level. Discussion and conclusion: There are significant variations in priority content according to age, gender and educational level. Finally, the present article provides evidence regarding the main priorities of patients in the chilean public system for informed consent.

3D Lumerical simulation of silicon photodiodes with microholes for high-speed short-reach intra-datacenter interconnects.

3D simulations are conducted using Lumerical software to study the performance of surface illuminated silicon positive-intrinsic-negative photodiodes with microholes. Drift-diffusion equations are solved including the effects of carrier lifetime due to Shockley-Read-Hall and Auger recombination mechanisms, as well as high field mobility. Lumerical's FDTD tool is used to determine the light absorption in the device. The generation profile is imported to Lumerical's CHARGE tool to determine the transient-limited impulse response. An equivalent circuit of the photodiode with microholes is developed for the simulation of an end-to-end high-speed system. Simulation results show an open eye diagram at 50 Gbps for 20µm×20µm devices.

Bacterial reservoir in deeper skin is a potential source for surgical site and biomaterial-associated infections.

BACKGROUND: The origin of surgical site and biomaterial-associated infection is still elusive. Micro-organisms contaminating the wound may come from the air in the operating theatre, the surgical team or the skin of the patient. The skin of patients is disinfected prior to surgery, but bacteria deeper in the skin (e.g. in sweat glands or sebaceous glands) may not be reached. METHODS: A preliminary cohort study was performed to study the origin of surgical site and biomaterial-associated infection between May 2020 and February 2021. In order to investigate whether cutaneous microbiota colonize the wound when released from the skin upon cutting, aerobic and anaerobic bacteria were isolated, quantified and identified from the skin of 99 patients undergoing trauma surgery, before and after skin disinfection, from knife blades and from the wound directly after the first cut. RESULTS: Ninety-nine percent of the patients were culture-positive before disinfection with chlorhexidine. Of these, 40% were still culture-positive after disinfection. Of these, 54% had a positive culture of the wound after cutting the skin. Twenty percent of the patients with a negative culture after disinfection had a positive wound culture after cutting the skin. Staphylococcus epidermidis and Cutibacterium acnes were the most commonly cultured bacterial species. In 9% of cases, more than 100 bacterial colonies were cultured from the wound; this may cause biomaterial-associated infection. CONCLUSION: Bacteria residing in the skin and not eradicated by disinfection may enter the surgical wound upon cutting, resulting in contamination which may cause biomaterial-associated infection.

A European-Japanese study on peach allergy: IgE to Pru p 7 associates with severity.

BACKGROUND: Pru p 3 and Pru p 7 have been implicated as risk factors for severe peach allergy. This study aimed to establish sensitization patterns to five peach components across Europe and in Japan, to explore their relation to pollen and foods and to predict symptom severity. METHODS: In twelve European (EuroPrevall project) and one Japanese outpatient clinic, a standardized clinical evaluation was conducted in 1231 patients who reported symptoms to peach and/or were sensitized to peach. Specific IgE against Pru p 1, 2, 3, 4 and 7 and against Cup s 7 was measured in 474 of them. Univariable and multivariable Lasso regression was applied to identify combinations of parameters predicting severity. RESULTS: Sensitization to Pru p 3 dominated in Southern Europe but was also quite common in Northern and Central Europe. Sensitization to Pru p 7 was low and variable in the European centers but very dominant in Japan. Severity could be predicted by a model combining age of onset of peach allergy, probable mugwort, Parietaria pollen and latex allergy, and sensitization to Japanese cedar pollen, Pru p 4 and Pru p 7 which resulted in an AUC of 0.73 (95% CI 0.73-0.74). Pru p 3 tended to be a risk factor in South Europe only. CONCLUSIONS: Pru p 7 was confirmed as a significant risk factor for severe peach allergy in Europe and Japan. Combining outcomes from clinical and demographic background with serology resulted in a model that could better predict severity than CRD alone.

Rendimiento diagnóstico y morbimortalidad de las biopsias pulmonares quirúrgicas en enfermedad pulmonar intersticial difusa

Introducción: Se denomina Enfermedad Pulmonar Intersticial Difusa (EPID) a un conjunto heterogéneo de patologías caracterizadas por inflamación y fibrosis pulmonar. El diagnóstico basado en patrones clínicos o radiológicos puede, ocasionalmente, ser insuficiente para iniciar un tratamiento. La biopsia pulmonar quirúrgica es una alternativa cuando se requiere aumentar la precisión diagnóstica luego de discusión multidisciplinaria. Objetivo: Describir el rendimiento diagnóstico, morbilidad y mortalidad de las biopsias quirúrgicas pulmonares en un hospital público chileno. Pacientes y Método: Cohorte retrospectiva de todos los pacientes a quienes se realizó biopsia quirúrgica por diagnóstico de EPID entre los años 2010 y 2020, indicada por un comité multidisciplinario. Se excluyen procedimientos similares o biopsias con diagnóstico de EPID como hallazgo incidental. Resultados: 38 pacientes intervenidos, mediana de edad de 63 años, 47% femenino. Solo 1 (2,6%) paciente operado de urgencia, y 34 (89,5%) por videotoracoscopía. 5 (13,1%) pacientes presentaron morbilidad, en 4 de ellos fuga aérea, ninguno requiriendo intervención adicional. No hubo rehospitalización, reoperación ni mortalidad a 90 días. En el 95% de los casos se alcanzó un diagnóstico preciso de la EPID tras discusión multidisciplinaria. Discusión: Se observa un alto rendimiento diagnóstico y una baja morbimortalidad en los pacientes estudiados. La baja frecuencia de procedimientos de urgencia y la adecuada indicación en comité multidisciplinario puede haber contribuido a la baja morbilidad. Conclusión: La biopsia pulmonar quirúrgica en un hospital general tiene un alto rendimiento diagnóstico cuando se discute en comité multidisciplinario para precisar el diagnostico en EPID, con una baja morbimortalidad si se seleccionan adecuadamente los pacientes.

Background: Interstitial Lung Disease (ILD) is a heterogeneous group of diseases characterized by inflammation and fibrosis of the lung. Diagnosis based exclusively on clinical or radiologic patterns may be inaccurate, and if a reliable diagnosis cannot be made, surgical lung biopsy can be strongly considered to increase the diagnostic yield after multidisciplinary committee. Objective: To review the diagnostic results, morbidity, and mortality of surgical biopsies in a chilean public health institution. Patients and Method: Retrospective cohort of patients operated for diagnostic purposes for ILD between 2010 - 2020. Surgical biopsies done for other diagnoses were excluded. Results: 38 patients were included, with a median age of 63 years, 47% were female. Only 1 patient (2.6%) underwent emergency surgery and 89.5% underwent minimally invasive surgery techniques. 5 patients had some morbidity (13.1%), 4 of them being air leak. All complications were successfully managed conservatively. We had no readmission, reoperations, or 90-day mortality in this cohort. In 95% of the cases an accurate diagnosis of ILD was reached after multidisciplinary discussion. Discussion: In our experience surgical lung biopsy has a high diagnostic yield and a low morbidity and mortality. A low number of emergency procedures and accurate surgical indication by an expert committee could explain the low morbidity. Conclusion: Surgical lung biopsy in a general hospital reach a high diagnostic performance when discussed in a multidisciplinary committee to specify the diagnosis in ILD, with low morbidity and mortality if patients are properly selected.