Exploring the potential of Artificial Intelligence in Traumatology: Conversational answers to specific questions. / Explorando el potencial de la inteligencia artificial en traumatología: respuestas conversacionales a preguntas específicas.

INTRODUCTION: Generative Artificial Intelligence is a technology that provides greater connectivity with people through conversational bots («chatbots¼). These bots can engage in dialogue using natural language indistinguishable from humans and are a potential source of information for patients.The aim of this study is to examine the performance of these bots in solving specific issues related to orthopedic surgery and traumatology using questions from the Spanish MIR exam between 2008 and 2023. MATERIAL AND METHODS: Three «chatbot¼ models (ChatGPT, Bard and Perplexity) were analyzed by answering 114 questions from the MIR. Their accuracy was compared, the readability of their responses was evaluated, and their dependence on logical reasoning and internal and external information was examined. The type of error was also evaluated in the failures. RESULTS: ChatGPT obtained 72.81% correct answers, followed by Perplexity (67.54%) and Bard (60.53%).Bard provides the most readable and comprehensive responses. The responses demonstrated logical reasoning and the use of internal information from the question prompts. In 16 questions (14%), all 3 applications failed simultaneously. Errors were identified, including logical and information failures. CONCLUSIONS: While conversational bots can be useful in resolving medical questions, caution is advised due to the possibility of errors. Currently, they should be considered as a developing tool, and human opinion should prevail over Generative Artificial Intelligence.

Spanish primary care in pediatric trauma (AITP) consensus: An AITP checklist. / Consenso AITP español: Una lista de verificación AITP.

INTRODUCTION: The course in Primary Care in Pediatric Trauma (ATIP in Spanish) has been taught in Spain since 1997, and there are currently 9 accredited training centers. Care of polytraumatized pediatric patients often takes place in an environment conducive to errors resulting from forgetfulness, which is why checklists - mnemonic tools widely used in industry and medicine - are particularly useful to avoid such errors. Although several checklists exist for pediatric trauma care, none have been developed within the setting of our course. MATERIALS AND METHODS: The criteria for being selected as an expert in Primary Care in Pediatric Trauma were agreed upon with the scientific polytrauma committee of the Spanish Pediatric Surgery Society. The items that make up the checklist were obtained from a review of the literature and consultation with selected experts, using the Delphi Technique. RESULTS: 10 experts representing the 9 groups or training centers in Primary Care in Pediatric Trauma were selected, and a 28-item checklist was drawn up in accordance with their design recommendations. CONCLUSIONS: With the consensus of all the groups, a checklist for the treatment of polytraumatized pediatric patients was drawn up using the Delphi Technique, an essential requirement for the dissemination of this checklist, which should be adapted and validated for use in each healthcare center.

INTRODUCCION: El curso de Asistencia Inicial al Trauma Pediátrico se imparte en España desde 1997, existiendo en la actualidad 9 centros formadores acreditados. La asistencia al paciente pediátrico politraumatizado se produce muchas veces en un ambiente proclive al error por olvido, por lo que las listas de verificación, como herramientas mnemotécnicas de amplia difusión en la industria y en medicina, serían especialmente útiles para evitarlos. Aunque existen varias listas de verificación para la asistencia al traumatismo pediátrico, ninguna se ha desarrollado en el entorno de nuestro curso. MATERIAL Y METODOS: Se acordaron los criterios para ser seleccionado como experto en Asistencia Inicial al Trauma Pediátrico con la comisión científica de politrauma de la Sociedad Española de Cirugía Pediátrica. Los ítems para formar la lista de verificación se obtuvieron a partir de una revisión bibliográfica y de la consulta a los expertos seleccionados, empleando un método Delphi. RESULTADOS: Se seleccionaron 10 expertos que representan los 9 grupos o centros formadores en Asistencia Inicial al Trauma Pediátrico y se elaboró una lista de verificación con 28 ítems, siguiendo sus recomendaciones de diseño. CONCLUSIONES: Se diseñó una lista de verificación para el manejo del paciente pediátrico politraumatizado, con el consenso de todos los grupos empleando un método Delphi, requisito fundamental para facilitar la difusión de esta lista. Sería preciso adaptar y validar dicha lista para su uso en cada centro asistencial.

High variability in Factor IX one-stage assay in samples spiked with nonacog beta pegol among different pairs of reagent/detection system.

INTRODUCTION: Haemophilia B (HB) is an X-linked hereditary bleeding disorder characterized by coagulation factor IX (FIX) deficiency. To improve the quality of life of patients and adherence to treatment, recombinant factor concentrates modified to extend their half-life have been developed, called extended half-life factors (EHL: extended half-life). Nonacog beta pegol (N9-GP) is a glycopegylated recombinant human FIX molecule that has a half-life of 93 h with a single dose and has shown a higher recovery percentage than other molecules. To diagnose and monitor the treatment of haemophiliac patients, FIX activity is determined with the one-stage clotting assay (OSA) and/or the chromogenic assay. The objective of this work, carried out in three centres, was to measure the recovery of N9-PG with 10 different activated partial thromboplastin time (APTT) reagents on three platforms, in samples spiked in vitro with N9-GP, at four different concentration levels. METHODS: It was measured the recovery of N9-GP with 10 different APTT reagents (polyphenol, ellagic acid, silice dioxide, colloidal silica as APTT activator on three platforms, in sample spiked in vitro with N9-GP. RESULTS: The results show heterogeneity in the activity of N9-GP measured by OSA with the different APTT reagents when the calibrations were performed with the specific calibrator of each coagulometer. A recovery percentage between 87% and 108% was obtained only with polyphenol and ellagic acid as activator in the three platforms evaluated. The other reagents studied overestimate or underestimate, with no clear profile. When a calibration curve was performed with a calibrator prepared from the N9-GP vial, all APTT reagents met the established recovery requirement. CONCLUSION: APTT reagents with polyphenol or ellagic acid as activator would be the only ones appropriate when using the commercially available OSA with specific calibrator to monitor patients treated with N9-GP.

Treatment of pectus excavatum with vacuum bell during puberty. / Tratamiento del pectus excavatum con campana de succión durante la pubertad.

OBJECTIVE: To assess the efficacy of the vacuum bell during puberty, according to the daily hours of use and treatment duration. MATERIALS AND METHODS: A retrospective analysis of patients treated with vacuum bell during puberty in the 2010-2021 period was carried out. Several variables were collected, including baseline and final sinking, repaired sinking expressed in cm and as a percentage from baseline sinking, daily hours of use, treatment duration, and complications. Patients were categorized into groups according to the daily hours of use (≤ 3 hours; 4-5 hours; ≥ 6 hours) and treatment duration (6-12 months; 13-24 months; 25-36 months; > 36 months), and they were statistically analyzed. RESULTS: A total of 50 patients -41 male and 9 female- were studied, with a mean age of 12.5 years (range: 10-14 years). No significant differences among groups were observed in terms of baseline sinking, thoracic index, and final sinking. Repaired sinking did increase with the daily hours of use, with significant differences. Complications were mild. 3 patients withdrew from follow-up, and 5 out of the 25 patients who completed treatment achieved a good repair. CONCLUSIONS: To increase treatment efficacy, the vacuum bell should be used for 6 hours/day during puberty. This method is well-tolerated, causes mild complications, and may be an alternative to surgery in some cases.

OBJETIVO: Evaluar la eficacia de la campana de succión durante la pubertad, según las horas diarias de uso y la duración del tratamiento. MATERIAL Y METODOS: Se evaluaron retrospectivamente los pacientes tratados con campana de succión durante la pubertad en el periodo 2010-2021. Se recogieron diferentes variables, incluyendo el hundimiento inicial y final, el hundimiento corregido expresado en centímetros y en porcentaje con respecto al hundimiento inicial, las horas diarias de uso, la duración del tratamiento y las complicaciones. Se categorizaron los pacientes en grupos según las horas diarias de uso (≤ 3 horas; 4-5 horas; ≥ 6 horas) y la duración del tratamiento (6-12 meses; 13-24 meses; 25-36 meses; > 36 meses), y se analizaron estadísticamente. RESULTADOS: Se estudiaron un total de 50 pacientes; 41 varones y 9 mujeres, con una edad media de 12,5 años (rango 10-14 años). No se observaron diferencias significativas entre los diferentes grupos en relación con el hundimiento inicial, el índice torácico y el hundimiento final. El hundimiento corregido aumentó en relación con las horas diarias de uso, con diferencias significativas. Las complicaciones fueron leves, 3 pacientes abandonaron el seguimiento y 5 pacientes de los 25 que finalizaron el tratamiento, alcanzaron una buena corrección. CONCLUSIONES: Para aumentar la eficacia del tratamiento, el tiempo de uso de la campana de succión durante la pubertad debería alcanzar las 6 horas diarias. Este método es bien tolerado, presenta leves complicaciones y puede ser una alternativa a la cirugía en algunos casos.

A neuropsychological approach in a paediatric acquired brain injury unit under the public health system.

INTRODUCTION: Paediatric acquired brain injury (ABI) causes cognitive and behavioural difficulties and alters the course of child development. The ABI unit at Hospital Infantil Universitario Niño Jesús is the first within the public Spanish health system to provide comprehensive coverage to these patients and their families. OBJECTIVE: This study aims to show the working methodology followed with patients and their families, and to describe the clinical characteristics of the patients treated and the outcomes of treatment. PATIENTS: Fifty-three patients aged between 3 months and 16 and a half years received treatment. The conditions treated were brain tumours, stroke, traumatic brain injury, damage secondary to epilepsy surgery, and hypoxia. METHODS: All patients were evaluated at admission and at discharge. Treatments were adapted to each patient's difficulties and their severity, as well as to the patient's age. Families received individual and group therapy. RESULTS: Older age was associated with better cognitive recovery and shorter duration of treatment. Different conditions show differential impact on intelligence quotient and developmental quotient scores at the beginning of treatment, with hypoxia and encephalitis being associated with greatest severity. Intelligence quotient and developmental quotient scores and visual memory and attention scores at discharge improved significantly after the faceted neuropsychological treatment with respect to scores registered at admission. CONCLUSIONS: The care of patients with ABI should include neuropsychological rehabilitation programmes and provide emotional support to the family so that they may actively participate in the recovery of the child or adolescent.

Prevalencia de infección por COVID-19 por serología positiva (IgG/IgM) en personal médico de la cátedra y servicio de otorrinolaringología del Hospital de Clínicas / Prevalence of COVID-19 infection by positive serology (IgG/IgM) in medical personnel of the chair and service of otorhinolaryngology of the Hospital de Clínicas

Resumen Introducción: El personal de otorrinolaringología presenta una elevada exposición al virus SARS-CoV-2, debido a los procedimientos que lleva a cabo. Es fundamental tomar las medidas de protección adecuadas. Determinar la seroprevalencia nos dará un mejor panorama sobre la exposición, contagios y efectividad de medidas de protección adoptadas. Objetivo: Determinar la prevalencia de resultados serológicos positivos en personal médico que presta servicio en la Cátedra de Otorrinolaringología de marzo del 2020 a marzo de 2021. Material y Método: Estudio observacional, descriptivo, corte transversal, retrospectivo con asociación cruzada. Muestreo no probabilístico de casos consecutivos. La población total fue de 38 médicos del Servicio de Otorrinolaringología del Hospital de Clínicas. Resultados: La media de edades fue 37,4 años, 63,5% refirió haber atendido a paciente conocido portador de COVID-19. Un 42% refirió no haber cumplido con todas las medidas de protección personal, mientras que un 23,7% de los sujetos de estudio dio positivo para IgG, interpretándose como infección previa por COVID-19. Conclusión: Más de las dos terceras partes de los médicos refirió dar consulta a paciente COVID-19 positivo. Casi la cuarta parte de los médicos resultó ser positivo para COVID-19 según la prueba de serología anti-N. No se halló asociación entre consulta ni cirugía a pacientes portadores de COVID-19 y el contagio al personal médico.

Abstract Introduction: Otolaryngology personnel have a high exposure to SARS-CoV-2 virus due to the procedures they perform. It is essential to take appropriate protective measures. Determining seroprevalence will give us a better picture of exposure, contagion and effectiveness of protective measures adopted. Aim: To determine the prevalence of positive serological results in medical staff serving in the otolaryngology department from March 2020 to March 2021. Material and Method: Observational, descriptive, cross-sectional, retrospective, retrospective study with cross-association. Non-probability sampling of consecutive cases. The total population was 38 physicians of the Otolaryngology Service of the Hospital de Clinicas. Results: The mean age was 37.4. 63.5% reported having seen a patient known to be a COVID-19 carrier, while 42% reported not having complied with all personal protection measures. A 23.68% of the study subjects tested positive for IgG, interpreting previous COVID-19 infection. Conclusion: More than two-thirds of the physicians referred to giving consultation to COVID-19 positive patients. Almost a quarter of the physicians were positive for COVID-19 according to the Anti-N serology test. No association was found between consultation or surgery of patients with COVID-19 and infection of medical personnel.

Targeting Alzheimer's disease with multimodal polypeptide-based nanoconjugates.

Alzheimer's disease (AD), the most prevalent form of dementia, remains incurable mainly due to our failings in the search for effective pharmacological strategies. Here, we describe the development of targeted multimodal polypeptide-based nanoconjugates as potential AD treatments. Treatment with polypeptide nanoconjugates bearing propargylamine moieties and bisdemethoxycurcumin or genistein afforded neuroprotection and displayed neurotrophic effects, as evidenced by an increase in dendritic density of pyramidal neurons in organotypic hippocampal culture. The additional conjugation of the Angiopep-2 targeting moiety enhanced nanoconjugate passage through the blood-brain barrier and modulated brain distribution with nanoconjugate accumulation in neurogenic areas, including the olfactory bulb. Nanoconjugate treatment effectively reduced neurotoxic ß amyloid aggregate levels and rescued impairments to olfactory memory and object recognition in APP/PS1 transgenic AD model mice. Overall, this study provides a description of a targeted multimodal polyglutamate-based nanoconjugate with neuroprotective and neurotrophic potential for AD treatment.

Ex-vivo evaluation of the three-column concept in canine thoracolumbar fractures / [Avaliação em ex-vivo do conceito dos três compartimentos em fraturas toracolombares da coluna]

Traumatic events such as a motor vehicle accident or falling from heights are very common in veterinary medicine and often lead to vertebral fracture-luxation with concomitant spinal cord injuries, mostly in the thoracolumbar spine. The purpose of this cadaveric biomechanical study was to determine the feasibility of the three-column concept in canine thoracolumbar segments with induced fractures. Eighteen Functional Spinal Units (FSU) of the thoracolumbar segments (T12-L2) were collected from 18 medium-sized adult dog cadavers and were subjected to flexion-extension and lateral bending tests so that range of motion (ROM) was recorded with a goniometer. Fractures were induced by compressive loads applied by a universal testing machine (EMIC®). After this, specimens were screened using computed tomography (CT) and the fractures were graded as affecting one, two or three columns, and divided into groups A, B, and C, respectively. Post-fracture range of motion (ROM) was compared with the previous results. Groups B and C (with fractures in two or three columns) had instability in the two axes evaluated (P<0.05). The outcomes of this study support the applicability of the three-column theory to thoracolumbar spines of dogs, as the FSUs that suffered fractures in two or more columns showed axial instability.(AU)

Eventos traumáticos, como acidentes automobilísticos ou quedas, são muito comuns na medicina veterinária e, frequentemente, levam a fraturas ou luxações vertebrais, associadas a lesões medulares concomitantes, mais frequentemente na coluna toracolombar. O propósito deste estudo biomecânico em cadáveres foi determinar a viabilidade da teoria dos três compartimentos em fraturas induzidas em segmentos toracolombares de cães. Dezoito unidades espinhais funcionais (UEF) de segmentos toracolombares (T12-L2) foram coletadas de 18 cadáveres de cães adultos de médio porte e submetidas a testes de flexão-extensão e curvamento lateral, de modo que a amplitude de movimento (ADM) foi registrada com um goniômetro. Fraturas foram induzidas por meio de cargas compressivas aplicadas por uma máquina universal de ensaios (EMIC®). As amostras foram submetidas à tomografia computadorizada (TC), e as fraturas foram classificadas como afetando um, dois ou três compartimentos e divididas nos grupos A, B e C, respectivamente. A ADM pós-fratura foi comparada com os resultados prévios. Os grupos B e C (com fraturas em dois ou três compartimentos) apresentaram instabilidade nos dois eixos avaliados (P<0,05). Os resultados deste estudo corroboram a aplicabilidade da teoria dos três compartimentos para segmentos de coluna toracolombar em cães, uma vez que as UEF que sofreram as fraturas em dois ou mais compartimentos apresentaram instabilidade axial.(AU)

A neuropsychological approach in a paediatric acquired brain injury unit under the public health system. / Abordaje neuropsicológico en una unidad pediátrica de daño cerebral adquirido del sistema público de salud.

INTRODUCTION: Paediatric acquired brain injury (ABI) causes cognitive and behavioural difficulties and alters the course of child development. The ABI unit at Hospital Infantil Universitario Niño Jesús is the first within the public Spanish health system to provide comprehensive coverage to these patients and their families. OBJECTIVE: This study aims to show the working methodology followed with patients and their families, and to describe the clinical characteristics of the patients treated and the outcomes of treatment. PATIENTS: Fifty-three patients aged between three months and 16 and a half years received treatment. The conditions treated were brain tumours, stroke, traumatic brain injury, damage secondary to epilepsy surgery, and hypoxia. METHODS: All patients were evaluated at admission and at discharge. Treatments were adapted to each patient's difficulties and their severity, as well as to the patient's age. Families received individual and group therapy. RESULTS: Older age was associated with better cognitive recovery and shorter duration of treatment. Different conditions show differential impact on intelligence quotient and developmental quotient scores at the beginning of treatment, with hypoxia and encephalitis being associated with greatest severity. Intelligence quotient and developmental quotient scores and visual memory and attention scores at discharge improved significantly after the faceted neuropsychological treatment with respect to scores registered at admission. CONCLUSIONS: The care of patients with ABI should include neuropsychological rehabilitation programmes and provide emotional support to the family so that they may actively participate in the recovery of the child or adolescent.

Phase I study of CC-90010, a reversible, oral BET inhibitor in patients with advanced solid tumors and relapsed/refractory non-Hodgkin's lymphoma.

BACKGROUND: Bromodomain and extra-terminal (BET) proteins are epigenetic readers that regulate expression of genes involved in oncogenesis. CC-90010 is a novel, oral, reversible, small-molecule BET inhibitor. PATIENTS AND METHODS: CC-90010-ST-001 (NCT03220347; 2015-004371-79) is a phase I dose-escalation and expansion study of CC-90010 in patients with advanced or unresectable solid tumors and relapsed/refractory (R/R) non-Hodgkin's lymphoma (NHL). We report results from the dose escalation phase, which explored 11 dose levels and four dosing schedules, two weekly (2 days on/5 days off; 3 days on/4 days off), one biweekly (3 days on/11 days off), and one monthly (4 days on/24 days off). The primary objectives were to determine the safety, maximum tolerated dose (MTD) and/or recommended phase II dose (RP2D) and schedule. Secondary objectives were to evaluate signals of early antitumor activity, pharmacokinetics, and pharmacodynamics. RESULTS: This study enrolled 69 patients, 67 with solid tumors and two with diffuse large B-cell lymphoma (DLBCL). The median age was 57 years (range, 21-80) and the median number of prior regimens was four (range, 1-9). Treatment-related adverse events (TRAEs) were mostly mild and manageable; grade 3/4 TRAEs reported in more than two patients were thrombocytopenia (13%), anemia, and fatigue (4% each). Six patients had dose-limiting toxicities. MTDs were 15 mg (2 days on/5 days off), 30 mg (3 days on/11 days off), and 45 mg (4 days on/24 days off). The RP2D and schedule selected for expansion was 45 mg (4 days on/24 days off). As of 8 October 2019, one patient with grade 2 astrocytoma achieved a complete response, one patient with endometrial carcinoma had a partial response, and six patients had prolonged stable disease ≥11 months. CONCLUSIONS: CC-90010 is well tolerated, with single-agent activity in patients with heavily pretreated, advanced solid tumors.

Efectos de dos protocolos de entrenamiento sobre el lactato sanguíneo en caballos de paso fino / Effects of two training protocols on blood lactate in paso fino horses

RESUMEN Objetivo: comparar los efectos de un protocolo de entrenamiento de resistencia (ER) con un protocolo tradicional (ET) sobre la concentración sanguínea de lactato (L) y la creatin kinasa (CK). Materiales y Métodos: se aplicaron dos protocolos de entrenamiento durante 6 meses divididos en tres etapas. Se realizaron pruebas de esfuerzo antes de comenzar los protocolos de entrenamiento y al finalizar cada una de las etapas. En cada prueba se tomaron muestras de sangre venosa en reposo, durante el ejercicio y en recuperación para medir el lactato (L) y al inicio y al final para medir la creatin kinasa (CK) e inferir las adaptaciones metabólicas y musculares. Se calculó la diferencia de medianas del lactato basal por medio de la U Mann Whitney y se comparó la diferencia de medias del porcentaje de aclaramiento entre los grupos a través de la T de Students. Resultados: se encontró una diferencia significativa en el porcentaje de depuración de lactato entre ER y ET. También hubo un aumento significativo de los valores de CK intra-grupos, antes y después de las pruebas, pero manteniéndose dentro de los rangos de referencia. Discusión: el ER aumentó la capacidad de metabolizar el lactato pos-ejercicio en potros con entrenamiento de resistencia, aunque no hubo diferencias entre la máxima producción de L entre el grupo ER y ET. El comportamiento de la CK dentro de los rangos de referencia indica que no hubo daño muscular en los potros de ambos grupos.

ABSTRACT Objective: To compare the effects of a resistance training protocol (ER) with a traditional protocol (ET) on blood lactate concentration and CK. Materials and methods: Two training protocols were applied for 6 months divided into three stages. Effort tests were performed before beginning the training protocols and at the end of each stage. In each test, samples of venous blood were taken at rest, during exercise and in recovery to measure lactate (L), and at the beginning and at the end to measure creatine kinase (CK) and infer metabolic and muscular adaptations. The difference in baseline lactate medians was calculated using Mann Whitney U and the mean difference in the percentage of clearance between the groups was compared through the Students' T test. Results: A significant difference in the percentage of lactate clearance between ER and ET was found. There was also a significant increase in intra-group CK values, before and after the tests, but remaining within the reference ranges. Discussion: ER increased the ability to metabolize post-exercise lactate in foals with resistance training, although there was no difference between the maximum production of L between the ER group and ET. The behavior of CK within the reference ranges indicates that there was no muscle damage in the foals of both groups of foals.

Utility of Basal Regional Oximetry as an Early Predictor of Graft Failure After Liver Transplant.

INTRODUCTION: Adequate perfusion and oxygenation to liver graft after transplantation is essential for its viability. Hepatic oximetry (hepatic tissue oxygenation [LSrO2]) through near infrared spectroscopy (NIRS) can help by showing real time oxygen content of the graft. METHODS: In this prospective study, we enrolled 50 consecutive patients undergoing liver transplant surgery from deceased donors. Liver NIRS (LSrO2) was continuously measured for 24 hours then analyzed and correlated with other clinical data such as hemoglobin (Hb), mixed venous oxygen saturation, cardiac index (CI), central venous pressure, arterial gases, diuresis, blood lactate, liver biochemistry, and normalized index ratio (INR). Severity disease scales and cold-warm ischemia time were also measured, as well as Doppler ultrasound (DUS) at hour 24. A statistical analysis with IBM SPSS 22 using Pearson correlation was carried out. RESULTS: LSrO2 could anticipate serious bleeding and hemodynamic events showing a decrease >10% from basal data. We found a significant correlation between LSrO2 with CI at 3 hours (P=.044), hemoglobin (Hb) at hour 3 and 24 (P = .004 and P = .002, respectively), and with Apache II (P=.041). A significant correlation was also detected between cold ischemia and INR at hour 24 (P=.016). No correlation of LSrO2 was found with lactate, liver biochemistry, and DUS data.

Keys to overcoming the challenge of diagnosing autosomal recessive spinocerebellar ataxia. / Claves para afrontar el reto diagnóstico de las heredoataxias recesivas.

INTRODUCTION: Autosomal recessive spinocerebellar ataxia refers to a large group of diseases affecting the cerebellum and/or its connections, although they may also involve other regions of the nervous system. These diseases are accompanied by a wide range of systemic manifestations (cardiopathies, endocrinopathies, skeletal deformities, and skin abnormalities). DEVELOPMENT: This study reviews current knowledge of the most common forms of autosomal recessive spinocerebellar ataxia in order to provide tips that may facilitate diagnosis. CONCLUSIONS: A thorough assessment of clinical phenotype (pure cerebellar or cerebellar-plus syndrome, with or without systemic manifestations), laboratory tests (vitamin E, acanthocytosis, albumin, cholesterol, phytanic acid, lactic acid, creatine kinase, cholestanol, coenzyme Q10, alpha-fetoprotein, copper, ceruloplasmin, chitotriosidase), nerve conduction studies (presence and type of neuropathy), and an magnetic resonance imaging study (presence of cerebellar atrophy, presence and location of signal alterations) may help establish a suspected diagnosis, which should be confirmed by detecting the underlying genetic mutation. A positive genetic test result is necessary to determine prognosis and provide adequate genetic counselling, and will also permit appropriate treatment of some entities (abetalipoproteinaemia, ataxia with vitamin E deficiency, Refsum disease, cerebrotendinous xanthomatosis, Niemann-Pick disease type C, Wilson disease). Without a genetic diagnosis, conducting basic research and therapeutic trials will not be possible.

Manejo clínico y programático de la tuberculosis con resistencia a fármacos / Clinical and programatic management of multidrug resistant tuberculosis

Resumen Se presenta parte de la información entregada durante un curso de capacitación en tuberculosis con resistencia a fármacos para referentes clínicos del PROCET de Chile, con la colaboración del Dr. José Antonio Caminero Luna. Se enfatizó el uso de métodos de diagnóstico rápidos de resistencia a fármacos basados en la biología molecular, técnicas más sensibles y específicas, con el análisis de algunos algoritmos de diagnóstico factibles de implementar en nuestro país. Se detallaron las nuevas propuestas de terapia de tuberculosis con resistencia a fármacos, especialmente TBC-MDR (multidrogo resistente), y las ventajas de nuevos esquemas terapéuticos de mayor eficacia como los que son recomendados actualmente por la Organización Mundial de la Salud (OMS).

This publication summarizes part of the information provided during a training in multidrug resistant tuberculosis (MDR-TB) for clinical specialists in all health services of Chile with the collaboration of Dr. Jose Antonio Caminero Luna and the Chilean Program of Control and Eradication of Tuberculosis (PROCET). Emphasis was placed on early, sensitive and specific diagnostic methods of resistance to drugs based on molecular biology, showing some diagnostic algorithms feasible to implement in our country. Some proposals were made for changes in the treatment of tuberculosis with resistance to drugs, especially MDR-TB, with more effective therapeutic regimens recommended by the World Health Organization (WHO).

HPV E6 oncoproteins and nucleic acids in neck lymph node fine needle aspirates and oral samples from patients with oropharyngeal squamous cell carcinoma.

Commercial assays measuring HPV E6 viral oncoproteins, E6/E7 mRNA or DNA were used to test neck lymph node fine needle aspirates (FNA) and oropharyngeal samples (saliva and oral swabs) from 59 Canadian patients with oropharyngeal squamous cell carcinomas (OPSCC). Overall agreements of p16 antigen staining of tumors to FNA tested for OncoE6™, Aptima HPV E6/E7 mRNA and cobas HPV DNA were 81.4% (k 0.53), 94.9% (k 0.83) and 91.1% (k 0.73) respectively. Using HPV presence in a subset of 25 tumors as the comparator, overall agreement was 64.0% (k 0.08) with OncoE6™, 88.0% (k 0.65) with Aptima HPV E6/E7 mRNA and 91.7% (k 0.70) with cobas HPV DNA. HPV testing of oropharyngeal samples yielded lower agreements with tumor markers; 23.7-24.0% (k 0.02), 55.9-68.0% (k 0.24-0.37) and 78.9-86.9% (k 0.49-0.58) in the 3 respective tests. HPV 16 was present in 93.7-100% of the samples tested and showed 100% genotype agreement between FNA and tumors. The high rates for HPV E6 oncoproteins and E6/E7 mRNA suggests most patients were experiencing transcriptionally active HPV-related OPSCC. Results from these commercial assays performed on FNA but not oropharyngeal samples showed moderate to very good agreements with p16 and HPV testing of tumors.

Radiation characterisation and dosimetric measurements of a femtosecond pulsed laser ablation system.

This work describes the radiation characterisation and dosimetric measurements performed on the low-energy micromachining station of the femtosecond STELA (Santiago TErawatt LAser) at the University of Santiago de Compostela (Spain). For this aim, ionisation chambers, solid state detectors, and radiochromic films were used. The results show the emission of pulsed x-ray produced by laser-accelerated electrons from the ablated material exhibiting both bremsstrahlung and characteristic radiation. Although this radiation was produced unintentionally, a high superficial dose rate can be achieved. This radiation can be successfully stopped using small shielding to protect personnel from its effects. Based on the results of this work, the yearly dose equivalent after installing the shielding was negligible.

An exudate detection method for diagnosis risk of diabetic macular edema in retinal images using feature-based and supervised classification.

The present paper aims at presenting the methodology and first results of a detection system of risk of diabetic macular edema (DME) in fundus images. The system is based on the detection of retinal exudates (Ex), whose presence in the image is clinically used for an early diagnosis of the disease. To do so, the system applies digital image processing algorithms to the retinal image in order to obtain a set of candidate regions to be Ex, which are validated by means of feature extraction and supervised classification techniques. The diagnoses provided by the system on 1058 retinographies of 529 diabetic patients at risk of having DME show that the system can operate at a level of sensitivity comparable to that of ophthalmological specialists: it achieved 0.9000 sensitivity per patient against 0.7733, 0.9133 and 0.9000 of several specialists, where the false negatives were mild clinical cases of the disease. In addition, the level of specificity reached by the system was 0.6939, high enough to screen about 70% of the patients with no evidence of DME. These values show that the system fulfils the requirements for its possible integration into a complete diabetic retinopathy pre-screening tool for the automated management of patients within a screening programme. Graphical Abstract Diagnosis system of risk of diabetic macular edema (DME) based on exudate (Ex) detection in fundus images.

Gradient sperm selection for reproductive techniques in cattle: Is Isolate a suitable replacement for Percoll?

In assisted reproductive techniques, it is essential to perform a sperm selection to obtain spermatozoa with high motility and membrane integrity for in vitro fertilisation (IVF) and high-DNA integrity for intracytoplasmic sperm injection (ICSI). In this study, we evaluated whether Isolate® was a suitable substitute for Percoll® for assisted reproductive techniques. Commercial cryopreserved bovine semen was used after selection in both gradients, and plasma and acrosome membrane integrity, reactive oxygen species (ROS) levels, DNA integrity and mitochondrial membrane potential (ΔΨm) were assessed by flow cytometry. Motility parameters were also evaluated by CASA system. A similar percentage of spermatozoa with intact plasma membrane, acrosome integrity and high ΔΨm was observed in both sperm selection methods, but only Percoll® showed higher percentage of spermatozoa with intact plasma and acrosome membrane compared to the post-thawing group. No differences were observed in the motility, ROS, DNA fragmentation and on the in vitro embryo production in all experimental groups. In conclusion, the selection of bovine spermatozoa with Isolate® generates spermatozoa with similar quality parameters and embryonic development compared to Percoll® providing a suitable alternative sperm selection method for assisted reproductive techniques in this species.