Leiomioma orbitario gigante en un paciente pediátrico: reto diagnóstico y terapéutico / Giant orbital leiomyoma in a pediatric patient: Diagnostic and therapeutic challenge

Este manuscrito presenta un caso de un leiomioma orbitario de larga evolución en un joven de 14años. El tumor era inusualmente grande y causaba una proptosis severa y una afectación importante de la musculatura ocular. El paciente presentaba amaurosis, una oftalmoplejía completa, dolor ocular espontáneo e incapacidad para cerrar los párpados. Debido al tamaño del tumor y a su progresión, se realizó una exenteración orbitaria derecha para eliminar todo el contenido orbitario, incluyendo el tumor y el globo ocular. El procedimiento quirúrgico tenía como objetivo prevenir la recurrencia del tumor y mejorar la calidad de vida del paciente. El análisis histopatológico confirmó el diagnóstico de leiomioma orbitario. Este caso presenta un interés particular por el grado de evolución que ha alcanzado. La extirpación completa del tumor y un seguimiento a largo plazo son necesarios para prevenir la recurrencia y garantizar resultados óptimos para el paciente. Además, este caso refleja las grandes diferencias en el acceso a la sanidad en las diferentes regiones del mundo. (AU)

This manuscript describes an exceptional case of a long-standing orbital leiomyoma in a 14-year-old male. The tumor was unusually large, causing severe proptosis and significant involvement of the ocular muscles. The patient presented with amaurosis, complete ophthalmoplegia, spontaneous eye pain, and the inability to close the eyelids, leading to psychological distress. Due to the tumor's size and progression, a right orbital exenteration was performed to remove all orbital contents, including the tumor and the eyeball. The surgical procedure aimed to prevent tumor recurrence and improve the patient's quality of life. The histopathological analysis confirmed the diagnosis of orbital leiomyoma. This case presents a particular interest due to the degree of evolution it has reached. Complete tumor excision and long-term follow-up are necessary to prevent recurrence and ensure optimal patient outcomes. This report underscores global healthcare disparities and the complexity of managing rare orbital neoplasms in diverse country settings. (AU)

Giant orbital leiomyoma in a pediatric patient: diagnostic and therapeutic challenge.

This manuscript describes an exceptional case of a long-standing orbital leiomyoma in a 14-year-old male. The tumor was unusually large, causing severe proptosis and significant involvement of the ocular muscles. The patient presented with amaurosis, complete ophthalmoplegia, spontaneous eye pain, and the inability to close the eyelids, leading to psychological distress. Due to the tumor's size and progression, a right orbital exenteration was performed to remove all orbital contents, including the tumor and the eyeball. The surgical procedure aimed to prevent tumor recurrence and improve the patient's quality of life. The histopathological analysis confirmed the diagnosis of orbital leiomyoma. This case presents a particular interest due to the degree of evolution it has reached. Complete tumor excision and long-term follow-up are necessary to prevent recurrence and ensure optimal patient outcomes. This report underscores global healthcare disparities and the complexity of managing rare orbital neoplasms in diverse country settings.

Spanish Society of Anesthesiology, Reanimation and Pain Therapy (SEDAR), Spanish Society of Emergency and Emergency Medicine (SEMES) and Spanish Society of Otolaryngology, Head and Neck Surgery (SEORL-CCC) Guideline for difficult airway management. Part I.

The Airway Management section of the Spanish Society of Anesthesiology, Resuscitation, and Pain Therapy (SEDAR), the Spanish Society of Emergency Medicine (SEMES), and the Spanish Society of Otorhinolaryngology and Head and Neck Surgery (SEORL-CCC) present the Guide for the comprehensive management of difficult airway in adult patients. Its principles are focused on the human factors, cognitive processes for decision-making in critical situations, and optimization in the progression of strategies application to preserve adequate alveolar oxygenation in order to enhance safety and the quality of care. The document provides evidence-based recommendations, theoretical-educational tools, and implementation tools, mainly cognitive aids, applicable to airway management in the fields of anesthesiology, critical care, emergencies, and prehospital medicine. For this purpose, an extensive literature search was conducted following PRISMA-R guidelines and was analyzed using the GRADE methodology. Recommendations were formulated according to the GRADE methodology. Recommendations for sections with low-quality evidence were based on expert opinion through consensus reached via a Delphi questionnaire.

Spanish Society of Anesthesiology, Reanimation and Pain Therapy (SEDAR), Spanish Society of Emergency and Emergency Medicine (SEMES) and Spanish Society of Otolaryngology, Head and Neck Surgery (SEORL-CCC) Guideline for difficult airway management. Part II.

The Airway Management section of the Spanish Society of Anesthesiology, Resuscitation, and Pain Therapy (SEDAR), the Spanish Society of Emergency Medicine (SEMES), and the Spanish Society of Otorhinolaryngology and Head and Neck Surgery (SEORL-CCC) present the Guide for the comprehensive management of difficult airway in adult patients. Its principles are focused on the human factors, cognitive processes for decision-making in critical situations, and optimization in the progression of strategies application to preserve adequate alveolar oxygenation in order to enhance safety and the quality of care. The document provides evidence-based recommendations, theoretical-educational tools, and implementation tools, mainly cognitive aids, applicable to airway management in the fields of anesthesiology, critical care, emergencies, and prehospital medicine. For this purpose, an extensive literature search was conducted following PRISMA-R guidelines and was analyzed using the GRADE methodology. Recommendations were formulated according to the GRADE methodology. Recommendations for sections with low-quality evidence were based on expert opinion through consensus reached via a Delphi questionnaire.

Facilitation of macrofaunal assemblages in marinas by the habitat-forming invader Amathia verticillata (Bryozoa: Gymnolaemata) across a spatiotemporal scale.

Widespread habitat-forming invaders inhabiting marinas, such as the spaghetti bryozoan Amathia verticillata, allow exploring facilitation processes across spatiotemporal contexts. Here we investigate the role of this bryozoan as habitat for native and exotic macrofaunal assemblages across different ecoregions of Western Mediterranean and East Atlantic coasts, and a monthly variation over a year. While only 7 (all peracarid crustaceans) of the 54 associated species were NIS, they dominated macrofaunal assemblages in terms of abundance, raising the potential for invasional meltdown. NIS richness and community structure differed among marinas but not among ecoregions, highlighting the importance of marina singularities in modulating facilitation at spatial scale. Despite facilitation did not depend on bryozoan abundance fluctuations, it was affected by its deciduous pattern, peaking in summer and disappearing in late winter. Monitoring A. verticillata in marinas, especially in summer periods, may improve the detection and management of multiple associated NIS.

Genetic variants associated with steatohepatitis and liver fibrosis in HIV-infected patients with NAFLD.

Background and aims: Nonalcoholic fatty liver disease (NAFLD) is a common cause of liver damage in people living with HIV (PLWHIV). Several studies have investigated candidate genes for susceptibility to NAFLD and to steatohepatitis. PNPLA3, TM6SF2, and MBOAT7-TMC4 have been reported to be associated with elevated ALT levels and the histologic parameters of nonalcoholic steatohepatitis and severity of fibrosis. Our objective was to analyze the relationship between PNPLA3, TM6SF2, and MBOAT7-TMC4 and steatosis, steatohepatitis, and liver fibrosis in PLWHIV with NAFLD. Method: A cohort of PLWHIV with persistently elevated aminotransferase levels and suspected NAFLD who underwent liver biopsy and determination of genetic variants was assessed at two large centers in Spain. All participants included in the current study were genotyped for rs738409 (PNPLA3), rs58542926 (TM6SF2), and rs641738 (MBOAT7-TMC4). Results: The study population comprised PLWHIV who were on stable antiretroviral therapy [7.7% women; median age, 49.3 years (44-53.4)]. The median CD4 count was 829 (650-980), 60% had metabolic syndrome, and 18.5% were diabetic. The median BMI was 28.9 (25.5-30.8). Patients with liver steatosis (any grade) vs. nonsteatosis tended to harbor the PNPLA3 G allele variant [57.6% vs. 16.7% (p = 0.09)], but not TM6SF2 or MBOAT7-TMC4 variants. However, those with steatohepatitis vs. nonsteatohepatitis significantly more frequently had the PNPLA3 G allele variant [69.4% vs. 39.1% (p < 0.05)] and the MBOAT7-TMC4 A allele variant [75% vs. 42% (p < 0.05)]. In our cohort, the TM6SF2 gene variant was not associated with steatosis or steatohepatitis. The PNPLA3 G allele variant was associated with steatohepatitis [OR 4.9 (1.3-18); p 0.02] and liver fibrosis [OR 4.3 (1.1-17.4); p 0.04], and the MBOAT7-TMC4 A allele variant was associated with steatohepatitis [OR 6.6 (1.6-27.6); p 0.01]. Conclusion: The PNPLA3 G allele variant and MBOAT7-TMC4 A allele variant were associated with steatohepatitis and liver fibrosis in PLWHIV with persistently elevated aminotransferases and NAFLD. We recommend routine genotyping for PNPLA3 and MBOAT7-TMC4 in PLWHIV with NAFLD to identify those at higher risk of progression.

Autosomal recessive spinocerebellar ataxia SCAR8/ARCA1: first families detected in Spain.

INTRODUCTION: Autosomal recessive spinocerebellar ataxia type 8 (ARCA1/SCAR8) is caused by mutations of the SYNE1 gene. The disease was initially described in families from Quebec (Canada) with a phenotype of pure cerebellar syndrome, but in recent years has been reported with a more variable clinical phenotype in other countries. Cases have recently been described of muscular dystrophy, arthrogryposis, and cardiomyopathy due to SYNE1 mutations. OBJECTIVE: To describe clinical and molecular findings from 4 patients (3 men and one woman) diagnosed with ARCA1/SCAR8 from 3 Spanish families from different regions. MATERIAL AND METHODS: We describe the clinical, paraclinical, and genetic results from 4 patients diagnosed with ARCA1/SCAR8 at different Spanish neurology departments. RESULTS: Onset occurred in the third or fourth decade of life in all patients. After 15 years of progression, 3 patients presented pure cerebellar syndrome, similar to the Canadian patients; the fourth patient, with over 30 years' progression, presented vertical gaze palsy, pyramidal signs, and moderate cognitive impairment. In all patients, MRI studies showed cerebellar atrophy. The genetic study revealed distinct pathogenic SYNE1 mutations in each family. CONCLUSIONS: ARCA1/SCAR8 can be found worldwide and may be caused by many distinct mutations in the SYNE1 gene. The disease may manifest with a complex phenotype of varying severity.

Even violins can cry: specifically vocal emotional behaviours also drive the perception of emotions in non-vocal music.

A wealth of theoretical and empirical arguments have suggested that music triggers emotional responses by resembling the inflections of expressive vocalizations, but have done so using low-level acoustic parameters (pitch, loudness, speed) that, in fact, may not be processed by the listener in reference to human voice. Here, we take the opportunity of the recent availability of computational models that allow the simulation of three specifically vocal emotional behaviours: smiling, vocal tremor and vocal roughness. When applied to musical material, we find that these three acoustic manipulations trigger emotional perceptions that are remarkably similar to those observed on speech and scream sounds, and identical across musician and non-musician listeners. Strikingly, this not only applied to singing voice with and without musical background, but also to purely instrumental material. This article is part of the theme issue 'Voice modulation: from origin and mechanism to social impact (Part I)'.

Mejoría del control de la hipertensión en la consulta con el uso de un dispositivo oscilométrico automático de lectura diferida / Improved office blood pressure control by automatic delayed-reading oscillometric device

Introducción: La medición de la presión arterial (PA) en la consulta es un procedimiento recomendado, aunque, actualmente, se está generalizando el uso de las medidas ambulatorias. Objetivo: Conocer el grado de control de la hipertensión arterial (HTA), usando la medición en la clínica. Material y métodos: Durante noviembre del 2019, se recogieron datos demográficos, clínicos, la PA sistólica (PAS) y diastólica (PAD) en consulta con observador, usando un aparato automático con lectura diferida y datos de monitorización ambulatoria de la PA (MAPA) en caso de haberse realizado. Resultados: Se incluyeron 102 pacientes (67 varones), con edad media de 64,9 años, 30% diabéticos y 34% con complicaciones cardiovasculares. Un 70% tenían una PA clínica controlada (< 140/90 mmHg), la PAS media fue de 131 ± 16,5 mmHg y la PAD de 73 ± 9,5 mmHg. Los pacientes ancianos y diabéticos presentaban un peor control. Treinta y tres sujetos disponían de MAPA, lo que permitió clasificarlos según la PA de 24 horas en: normotensión verdadera 30%, HTA aislada en consulta 9%, HTA sostenida 15% y HTA enmascarada 45%. Conclusión: El uso de aparatos automáticos disminuye el fenómeno de bata blanca mejorando el porcentaje de pacientes con HTA controlada en la consulta. Sin embargo, este control no se confirma fuera de ella, lo que evidencia la importancia de la MAPA en la evaluación global de la HTA. La toma de la PA en la consulta es útil en la valoración inicial del paciente y aporta aspectos educativos, aunque hay que optimizar la metodología para definir su papel en la clínica. (AU)

Introduction: Office blood pressure (BP) measurement is a recommended procedure, although the out-of-office BP measurements are increasingly used. Objective: To know the degree of BP control by clinical measurement. Material and methods: During November 2019 demographic and clinical data, office attended systolic BP (SBP) and diastolic BP (DBP) measured with an automatic device with delayed reading and, if performed, data from ambulatory BP monitoring (ABPM) were collected. Results: 102 patients (67 men) were included, with a mean age of 64.9 years, 30% diabetic and 34% with cardiovascular complications. 70% had a controlled hypertesion (<140/90 mmHg) by office BP, the mean SBP was 131 ± 16.5 mmHg and the DBP was 73 ± 9.5 mmHg. Old age and diabetes were associated with uncontrolled hypertension. Thirty three patients had ABPM data, which allowed them to be classified according to the 24-hour BP into: 30% true normotension, 9% white-coat hypertension, 15% sustained hypertension, and 45% masked hypertension. Conclusion: The use of automatic devices reduces the white-coat phenomenon, improving the % of patients with office BP controlled. However, this is not confirmed outside the clinic, showing the importance of ABPM in the evaluation of hypertension control. Office BP measurement is useful in patients initial assessment and also provides educational aspects, although the methodology must be optimized to define its clinical role. (AU)

News media representations of women who kill their newly born children.

This paper presents a first quantitative analysis of language in media reports of neonaticide and a comparative examination of language use within the reports. One thousand twenty-seven Austrian print media reports from 2004 to 2014 were retrieved; after exclusion, 331 were analysed using the Linguistic Inquiry and Word Count (LIWC) software. After a preliminary analysis, a comparative analysis was carried out between reports on the Graz case and all other cases. The preliminary analysis revealed that a majority of media reports were related to one repeat neonaticide case (Graz) despite not being clinically different from other cases identified for the same period. The comparative linguistic analysis shows some statistically significant differences relating to the domains of emotional words (less words of anxiety, sadness) and family and in the category of insight and certainty (more words). The unexpected media attention on the Graz case and the ensuing verdict, which was in contradiction with the Austrian infanticide act, might have been influenced by the way language was used by journalists and the media. The authors suggest guidelines on sensitive media reporting are required.

[Improved office blood pressure control by automatic delayed-reading oscillometric device]. / Mejoría del control de la hipertensión en la consulta con el uso de un dispositivo oscilométrico automático de lectura diferida.

INTRODUCTION: Office blood pressure (BP) measurement is a recommended procedure, although the out-of-office BP measurements are increasingly used. OBJECTIVE: To know the degree of BP control by clinical measurement. MATERIAL AND METHODS: During November 2019 demographic and clinical data, office attended systolic BP (SBP) and diastolic BP (DBP) measured with an automatic device with delayed reading and, if performed, data from ambulatory BP monitoring (ABPM) were collected. RESULTS: 102 patients (67 men) were included, with a mean age of 64.9 years, 30% diabetic and 34% with cardiovascular complications. 70% had a controlled hypertesion (<140/90 mmHg) by office BP, the mean SBP was 131 ± 16.5 mmHg and the DBP was 73 ± 9.5 mmHg. Old age and diabetes were associated with uncontrolled hypertension. Thirty three patients had ABPM data, which allowed them to be classified according to the 24-hour BP into: 30% true normotension, 9% white-coat hypertension, 15% sustained hypertension, and 45% masked hypertension. CONCLUSION: The use of automatic devices reduces the white-coat phenomenon, improving the % of patients with office BP controlled. However, this is not confirmed outside the clinic, showing the importance of ABPM in the evaluation of hypertension control. Office BP measurement is useful in patients initial assessment and also provides educational aspects, although the methodology must be optimized to define its clinical role.

Medical and Legal Aspects of the Practice of Teledermatology in Spain. / Aspectos medicolegales de la práctica de la teledermatología en España.

Teledermatology is now fully incorporated into our clinical practice. However, after reviewing current legislation on the ethical aspects of teledermatology (data confidentiality, quality of care, patient autonomy, and privacy) as well as insurance and professional responsibility, we observed that a specific regulatory framework is still lacking and related legal aspects are still at a preliminary stage of development. Safeguarding confidentiality and patient autonomy and ensuring secure storage and transfer of data are essential aspects of telemedicine. One of the main topics of debate has been the responsibilities of the physicians involved in the process, with the concept of designating a single responsible clinician emerging as a determining factor in the allocation of responsibility in this setting. A specific legal and regulatory framework must be put in place to ensure the safe practice of teledermatology for medical professionals and their patients.