Developmental and biochemical markers of the impact of pollutant mixtures under the effect of Global Climate Change.

This study investigates the combined impact of microplastics (MP) and Chlorpyriphos (CPF) on sea urchin larvae (Paracentrotus lividus) under the backdrop of ocean warming and acidification. While the individual toxic effects of these pollutants have been previously reported, their combined effects remain poorly understood. Two experiments were conducted using different concentrations of CPF (EC10 and EC50) based on previous studies from our group. MP were adsorbed in CPF to simulate realistic environmental conditions. Additionally, water acidification and warming protocols were implemented to mimic future ocean conditions. Sea urchin embryo toxicity tests were conducted to assess larval development under various treatment combinations of CPF, MP, ocean acidification (OA), and temperature (OW). Morphometric measurements and biochemical analyses were performed to evaluate the effects comprehensively. Results indicate that combined stressors lead to significant morphological alterations, such as increased larval width and reduced stomach volume. Furthermore, biochemical biomarkers like acetylcholinesterase (AChE), glutathione S-transferase (GST), and glutathione reductase (GRx) activities were affected, indicating oxidative stress and impaired detoxification capacity. Interestingly, while temperature increase was expected to enhance larval growth, it instead induced thermal stress, resulting in lower growth rates. This underscores the importance of considering multiple stressors in ecological assessments. Biochemical biomarkers provided early indications of stress responses, complementing traditional growth measurements. The study highlights the necessity of holistic approaches when assessing environmental impacts on marine ecosystems. Understanding interactions between pollutants and environmental stressors is crucial for effective conservation strategies. Future research should delve deeper into the impacts at lower biological levels and explore adaptive mechanisms in marine organisms facing multiple stressors. By doing so, we can better anticipate and mitigate the adverse effects of anthropogenic pollutants on marine biodiversity and ecosystem health.

Efecto de un equipo multidisciplinar (código TEP) en el pronóstico de los pacientes con tromboembolia de pulmón aguda sintomática / Impact of a pulmonary embolism response team (PERT) in the prognosis of patients with acute symptomatic pulmonary embolism

Antecedentes No se han aclarado suficientemente los beneficios del manejo multidisciplinar (código TEP) de los pacientes con tromboembolia de pulmón (TEP) aguda sintomática. El objetivo de este estudio fue evaluar el efecto sobre la mortalidad a corto plazo del código TEP comparado con la atención habitual. Métodos Realizamos un estudio retrospectivo que incluyó a todos los pacientes con diagnóstico de TEP aguda sintomática ingresados en un hospital terciario universitario entre los años 2007 y 2022. Mediante un análisis de emparejamiento exacto 1:1, los pacientes atendidos por un equipo multidisciplinar para el manejo de la TEP (código TEP) fueron emparejados con otros que recibieron la atención habitual (es decir, no multidisciplinar) para la TEP. El evento primario de eficacia fue la mortalidad por cualquier causa durante los 30 primeros días después del diagnóstico. El evento secundario de eficacia fue la mortalidad por la propia TEP durante el mismo período de tiempo. Resultados De los 2.902 pacientes con diagnóstico de TEP aguda sintomática incluidos en este estudio, 223 (7,7%; intervalo de confianza [IC] del 95%: 6,7-8,7%) fueron manejados por el código TEP. Se emparejaron 207 pacientes manejados por el código TEP con 207 pacientes manejados de forma habitual. En la cohorte emparejada, la atención multidisciplinar a los pacientes con TEP aguda sintomática no se asoció a una reducción significativa de la mortalidad por cualquier causa (odds ratio [OR]: 1,09; IC del 95%: 0,63-1,89) o por la propia TEP (OR: 1,30; IC del 95%: 0,47-3,62) en el mes posterior al diagnóstico de la TEP. Conclusiones La atención multidisciplinar a los pacientes con TEP aguda sintomática no se asoció a una reducción significativa de la mortalidad precoz. (AU)

Background The effect of a pulmonary embolism response team (PERT) in the short-term prognosis of patients with acute symptomatic pulmonary embolism (PE) lacks clarity. We therefore aimed at evaluating the effect of a PERT team on short-term mortality among patients with acute PE. Methods We retrospectively reviewed consecutive patients with acute symptomatic PE enrolled in a single-center registry between 2007 and 2022. We used propensity score matching to compare treatment effects for patients with similar predicted probabilities of receiving management by the PERT team. The primary outcome was all-cause mortality within 30 days following the diagnosis of PE. The secondary outcome was 30-day PE-related mortality. Results Of the 2,902 eligible patients who had acute symptomatic PE, 223 (7.7%; 95% confidence interval [CI], 6.7%-8.7%) were managed by the PERT team. Two hundred and seven patients who were treated by the PERT were matched with 207 patients who were not. Matched pairs did not show a statistically significant lower all-cause (odds ratio [OR], 1.09; 95% CI, 0.63-1.89) or PE-related death (OR, 1.30; 95% CI, 0.47-3.62) for PERT management compared with no PERT management through 30 days after diagnosis of PE. Conclusions Our results suggest that multidisciplinary care of patients with acute symptomatic PE by a PERT team is not associated with a significant reduction in short-term all-cause or PE-related mortality. (AU)

Impact of a pulmonary embolism response team (PERT) in the prognosis of patients with acute symptomatic pulmonary embolism.

BACKGROUND: The effect of a pulmonary embolism response team (PERT) in the short-term prognosis of patients with acute symptomatic pulmonary embolism (PE) lacks clarity. We therefore aimed at evaluating the effect of a PERT team on short-term mortality among patients with acute PE. METHODS: We retrospectively reviewed consecutive patients with acute symptomatic PE enrolled in a single-center registry between 2007 and 2022. We used propensity score matching to compare treatment effects for patients with similar predicted probabilities of receiving management by the PERT team. The primary outcome was all-cause mortality within 30 days following the diagnosis of PE. The secondary outcome was 30-day PE-related mortality. RESULTS: Of the 2,902 eligible patients who had acute symptomatic PE, 223 (7.7%; 95% confidence interval [CI], 6.7%-8.7%) were managed by the PERT team. Two hundred and seven patients who were treated by the PERT were matched with 207 patients who were not. Matched pairs did not show a statistically significant lower all-cause (odds ratio [OR], 1.09; 95% CI, 0.63-1.89) or PE-related death (OR, 1.30; 95% CI, 0.47-3.62) for PERT management compared with no PERT management through 30 days after diagnosis of PE. CONCLUSIONS: Our results suggest that multidisciplinary care of patients with acute symptomatic PE by a PERT team is not associated with a significant reduction in short-term all-cause or PE-related mortality.

El Instituto de Higiene y la enseñanza de la Bacteriología en Chile

El Instituto de Higiene, fundado por el gobierno de Chile en 1892, aparte de sus funciones en el ámbito de la salud pública, participó activamente en la docencia de pregrado de Bacteriología de la Escuela de Medicina de la Universidad de Chile. La cátedra de Bacteriología fundada en 1895 fue trasladada en 1902 a la sección de seroterapia de dicho instituto (uno de los cinco edificios que formaban el instituto). La cátedra permaneció en ese lugar por tres décadas, siendo trasladada en 1930 por el Dr. Hugo Vaccaro de vuelta a la Escuela de Medicina. Por otra parte, la cátedra extraordinaria de Bacteriología siguió ligada a dicho instituto y a su inmediato sucesor el Instituto Bacteriológico de Chile. Sin embargo, luego del incendio de la Escuela de Medicina en 1948, la cátedra ordinaria tuvo que retornar a sus antiguos edificios en la ribera del Mapocho y paralelamente la cátedra extraordinaria se trasladó a una nueva ubicación en Ñuñoa.

The Institute of Hygiene, founded by the Chilean government in 1892, apart from its functions in the field of public health, actively participated in the undergraduate teaching of Bacteriology at the School of Medicine of the University of Chile. The chair of Bacteriology founded in 1895 was transferred in 1902 to the serotherapy section of the mentioned institute (one of the five buildings that made up the institute). The chair remained in that place for three decades, being transferred by Dr. Hugo Vaccaro back to the School of Medicine in 1930. On the other hand, the Extraordinary Chair of Bacteriology continued to be linked to the said institute and to its immediate successor, the Bacteriological Institute of Chile. However, after the fire at the School of Medicine in 1948, the ordinary chair had to return to its old buildings on the banks of the Mapocho and at the same time the extraordinary chair moved to a new location in Ñuñoa.

Oncological monitoring after transanal total mesorectal excision (TaTME) for rectal neoplasia.

BACKGROUND: The surgical treatment of choice for rectal neoplasia is total mesorectal excision (TME). The transanal approach enables a better approach in male and obese patients and/or those with a narrow pelvis and in patients with small tumors. Short-term results are comparable with those for laparoscopy or the open approach, but the medium- and long-term oncological data are sparse. The aim of the present study was to evaluate our early experience with transanal TME (TaTME). METHODS: This was a retrospective study conducted on patients who underwent TaTME at our center between August 2013 and April 2017 with a follow-up ≥ 3 years. Histopathology, complications, mortality, neoplastic recurrence and disease-free survival were analyzed. RESULTS: One hundred patients (68 men and 32 women,, median age 66.8 years [range 29.6-91.2 years]) were included. There were 67 T3 cases (67%) with 74 N0 cases (74%), the mesorectal quality was graded optimal for 87.6% and only 2 cases of radial margin involvement were detected (2%). The median follow-up period was 47.6 months (range 11.8-78.9 months). Eighteen cases of recurrence were diagnosed, of which 3 (3%) recurred locally with an average disease-free period of 43.1 months. Overall survival was 80% and mortality due to progression of disease was 13%. CONCLUSIONS: TaTME is a safe surgical procedure with surgical, anatomopathological and oncological results at 3 years (medium-term) comparable with those for the laparoscopic and open approaches. Better monitoring is required with studies of the long-term functional and quality of life outcomes, i.e., at 5 or 10 years.

[McArdle's disease in four pediatric patients. Diagnostic algorithm for exercise intolerance]. / Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio.

INTRODUCTION: McArdle's disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen. It usually manifests itself in childhood with early and excessive tiredness, myalgias, cramps and contractures or rhabdomyolysis, although it is not usually diagnosed until adulthood. Creatine kinase increases sharply during exercise. Four pediatric patients are presented, the pathophysiology is summarized, and a diagnostic algorithm is proposed. PATIENTS AND METHODS: Ages between 6 and 14 years, the anamnesis, physical examination, biochemistry, elec-tro-myogram, ischemia test and genetic study are described. Muscle biopsy in a single patient. The algorithm was developed from the ischemia test. RESULTS: In the three men, myalgias appeared after finishing each sports session. Phenomenon 'second wind' in one case. Ischemia test without lactate elevation and marked ammonia elevation in all. Only one muscle biopsy with glycogen deposits and absence of myophosphorylase. PYGM gene with homozygous mutations in all. Dietary treatment attenuated their symptoms during aerobic exercises. CONCLUSIONS: The ischemia test was very useful to demonstrate a dysfunction in anaerobic glycolysis. It is worth noting that oral glucose supplementation is very useful in McArdle disease, but is contraindicated in all six defects of anaerobic glycolysis. The algorithm also allows targeting the defect of 20 metabolic or structural myopathies, which are summarized.

TITLE: Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio.Introducción. La enfermedad de McArdle está causada por una mutación en el gen PYGM y déficit de miofosforilasa muscular, resultando alterada la liberación de glucosa-1-P a partir del glucógeno. Suele manifestarse en la infancia con cansancio precoz y excesivo, mialgias, calambres y contracturas o rabdomiólisis, aunque no suele diagnosticarse hasta la etapa adulta. La creatincinasa se incrementa durante el ejercicio. Se presentan cuatro pacientes pediátricos, se resume la fisiopatología y se propone un algoritmo diagnóstico. Pacientes y métodos. Pacientes con edades entre 6 y 14 años. Se describe la anamnesis, la exploración física, la bioquímica, el electromiograma, el test de isquemia y el estudio genético, con biopsia muscular a un solo paciente. Se elabora un algoritmo a partir del test de isquemia. Resultados. En los tres varones, las mialgias aparecieron tras finalizar cada sesión deportiva, con un fenómeno second wind en un caso. Se apreció un test de isquemia sin elevación del lactato y marcada elevación del amonio en todos, una biopsia muscular con depósitos de glucógeno y ausencia de miofosforilasa, y gen PYGM con mutaciones homocigotas en todos. El tratamiento dietético les atenuó la sintomatología durante los ejercicios aeróbicos. Conclusiones. El test de isquemia resultó muy útil para demostrar una disfunción en la glucólisis anaeróbica. Se destaca que el suplemento oral de glucosa es muy útil para la enfermedad de McArdle, pero está contraindicado en los seis defectos de la glucólisis anaeróbica. El algoritmo también permite orientar el defecto de 20 miopatías metabólicas o estructurales, que se resumen.

Enfermedad de McArdle en cuatro pacientes pediátricos. Algoritmo diagnóstico ante una intolerancia al ejercicio / McArdle’s disease in four pediatric patients. Diagnostic algorithm for exercise intolerance

Introducción: La enfermedad de McArdle está causada por una mutación en el gen PYGM y déficit de miofosforilasa muscular, resultando alterada la liberación de glucosa-1-P a partir del glucógeno. Suele manifestarse en la infancia con cansancio precoz y excesivo, mialgias, calambres y contracturas o rabdomiólisis, aunque no suele diagnosticarse hasta la etapa adulta. La creatincinasa se incrementa durante el ejercicio. Se presentan cuatro pacientes pediátricos, se resume la fisiopatología y se propone un algoritmo diagnóstico. Pacientes y métodos: Pacientes con edades entre 6 y 14 años. Se describe la anamnesis, la exploración física, la bioquímica, el electromiograma, el test de isquemia y el estudio genético, con biopsia muscular a un solo paciente. Se elabora un algoritmo a partir del test de isquemia. Resultados: En los tres varones, las mialgias aparecieron tras finalizar cada sesión deportiva, con un fenómeno second wind en un caso. Se apreció un test de isquemia sin elevación del lactato y marcada elevación del amonio en todos, una biopsia muscular con depósitos de glucógeno y ausencia de miofosforilasa, y gen PYGM con mutaciones homocigotas en todos. El tratamiento dietético les atenuó la sintomatología durante los ejercicios aeróbicos. Conclusiones: El test de isquemia resultó muy útil para demostrar una disfunción en la glucólisis anaeróbica. Se destaca que el suplemento oral de glucosa es muy útil para la enfermedad de McArdle, pero está contraindicado en los seis defectos de la glucólisis anaeróbica. El algoritmo también permite orientar el defecto de 20 miopatías metabólicas o estructurales, que se resumen.(AU)

INTRODUCTION: McArdle’s disease is caused by a mutation in the PYGM gene, causing a muscle myophosphorylase deficiency, altering the release of glucose-1-P from glycogen. It usually manifests itself in childhood with early and excessive tiredness, myalgias, cramps and contractures or rhabdomyolysis, although it is not usually diagnosed until adulthood. Creatine kinase increases sharply during exercise. Four pediatric patients are presented, the pathophysiology is summarized, and a diagnostic algorithm is proposed. PATIENTS AND METHODS: Ages between 6 and 14 years, the anamnesis, physical examination, biochemistry, elec­tro­myogram, ischemia test and genetic study are described. Muscle biopsy in a single patient. The algorithm was developed from the ischemia test. RESULTS: In the three men, myalgias appeared after finishing each sports session. Phenomenon ‘second wind’ in one case. Ischemia test without lactate elevation and marked ammonia elevation in all. Only one muscle biopsy with glycogen deposits and absence of myophosphorylase. PYGM gene with homozygous mutations in all. Dietary treatment attenuated their symptoms during aerobic exercises. CONCLUSIONS:The ischemia test was very useful to demonstrate a dysfunction in anaerobic glycolysis. It is worth noting that oral glucose supplementation is very useful in McArdle disease, but is contraindicated in all six defects of anaerobic glycolysis. The algorithm also allows targeting the defect of 20 metabolic or structural myopathies, which are summarized.(AU)

Apparent regional differences in the spectrum of BARD1 pathogenic variants in Spanish population and importance of copy number variants.

Only up to 25% of the cases in which there is a familial aggregation of breast and/or ovarian cancer are explained by germline mutations in the well-known BRCA1 and BRCA2 high-risk genes. Recently, the BRCA1-associated ring domain (BARD1), that partners BRCA1 in DNA repair, has been confirmed as a moderate-risk breast cancer susceptibility gene. Taking advantage of next-generation sequencing techniques, and with the purpose of defining the whole spectrum of possible pathogenic variants (PVs) in this gene, here we have performed a comprehensive mutational analysis of BARD1 in a cohort of 1946 Spanish patients who fulfilled criteria to be tested for germline pathogenic mutations in BRCA1 and BRCA2. We identified 22 different rare germline variants, being 5 of them clearly pathogenic or likely pathogenic large deletions, which account for 0.26% of the patients tested. Our results show that the prevalence and spectrum of mutations in the BARD1 gene might vary between different regions of Spain and expose the relevance to test for copy number variations.

Delphi consensus on recommendations for the treatment of spinal muscular atrophy in Spain (RET-AME consensus).

INTRODUCTION: Spinal muscular atrophy (SMA) is a neurodegenerative disease caused by a biallelic mutation of the SMN1 gene, located on the long arm of chromosome 5, and predominantly affects the motor neurons of the anterior horn of the spinal cord, causing progressive muscle weakness and atrophy. The development of disease-modifying treatments is significantly changing the natural history of SMA, but uncertainty remains about which patients can benefit from these treatments and how that benefit should be measured. METHODOLOGY: A group of experts specialised in neurology, neuropediatrics, and rehabilitation and representatives of the Spanish association of patients with SMA followed the Delphi method to reach a consensus on 5 issues related to the use of these new treatments: general aspects, treatment objectives, outcome assessment tools, requirements of the treating centres, and regulation of their use. Consensus was considered to be achieved when a response received at least 80% of votes. RESULTS: Treatment protocols are useful for regulating the use of high-impact medications and should guide treatment, but should be updated regularly to take into account the most recent evidence available, and their implementation should be assessed on an individual basis. Age, baseline functional status, and, in the case of children, the type of SMA and the number of copies of SMN2 are characteristics that should be considered when establishing therapeutic objectives, assessment tools, and the use of such treatments. The cost-effectiveness of these treatments in paediatric patients is mainly influenced by early treatment onset; therefore, the implementation of neonatal screening is recommended. CONCLUSIONS: The RET-AME consensus recommendations provide a frame of reference for the appropriate use of disease-modifying treatments in patients with SMA.

Mortalidad atribuida al consumo de tabaco en las comunidades autónomas de España, 2017 / Smoking-attributable mortality in the autonomous communities of Spain, 2017

Introducción y objetivos: Estimar la mortalidad atribuida (MA) al consumo de tabaco en las comunidades autónomas (CCAA) de España en población de edad ≥ 35 años en 2017. Métodos: Se estimó la MA empleando un método dependiente de prevalencias basado en el cálculo de fracciones atribuidas poblacionales. La mortalidad observada procede del Instituto Nacional de Estadística; las prevalencias de consumo por sexo y edad, de la Encuesta Nacional de Salud de 2011 y 2017 y la Encuesta europea de 2014, y los riesgos relativos, del seguimiento de 5 cohortes norteamericanas. Se presentan estimaciones de MA y fracciones atribuidas poblacionales para cada comunidad autónoma por causa de muerte, sexo y edad y tasas de MA específicas y ajustadas. Resultados: El tabaco causó 53.825 muertes en España en la población de 35 o más años (el 12,9% de la mortalidad total). La carga de MA sobre la mortalidad observada varía del 10,8% en La Rioja al 15,3% en Canarias. Tras ajustar las tasas de MA por edad, las diferencias entre CCAA se mantienen, y las tasas más altas en los varones se observan en Extremadura y en las mujeres, en Canarias. Las tasas ajustadas de los varones se correlacionan negativamente con las de las mujeres. El porcentaje que suponen las enfermedades cardiovasculares sobre la MA total de cada comunidad autónoma oscila entre el 21,8% de Castilla-La Mancha y el 30,3% de Andalucía. Conclusiones: La carga de MA al consumo de tabaco varía entre las CCAA. Realizar un análisis detallado por regiones aporta información relevante para la implantación de políticas sanitarias dirigidas a frenar el impacto del tabaquismo (AU)

Introduction and objectives: To estimate smoking-attributable mortality (SAM) in the regions of Spain among people aged ≥ 35 years in 2017. Methods: SAM was estimated using a prevalence dependent method based calculating the population attributable fraction. Observed mortality was derived from the National Statistics Institute. The prevalence of smoking by age and sex was based on the Spanish National Health Survey for 2011 and 2017 and the European Survey for 2014. Relative risks were reported from the follow-up of 5 North American cohorts. SAM and population attributable fraction were estimated for each region by age group, sex, and causes of death. Cause-specific and adjusted SAM rates were estimated. Results: Smoking caused 53 825 deaths in the population aged ≥ 35 years (12.9% of all-cause mortality). SAM ranged from 10.8% of observed mortality in La Rioja to 15.3% in the Canary Islands. The differences remained after rates were adjusted by age. The highest adjusted SAM rates were observed in Extremadura in men and in the Canary Islands in women. Adjusted SAM rates in men were inversely correlated with those in women. The percentage of total SAM represented by cardiovascular diseases in each region ranged from 21.8% in Castile-La Mancha to 30.3% in Andalusia. Conclusions: The distribution of SAM differed among regions. Conducting a detailed region-by-region analysis provides relevant information for health policies aiming to curb the impact of smoking (AU)

Predictors of retention in the prospective HIV prevention OKAPI cohort in Kinshasa.

Retention is a key element in HIV prevention programs. In Sub-Saharan Africa most data on retention come from HIV clinical trials or people living with HIV attending HIV treatment and control programs. Data from observational cohorts are less frequent. Retention at 6-/12-month follow-up and its predictors were analyzed in OKAPI prospective cohort. From April 2016 to April 2018, 797 participants aged 15-59 years attending HIV Voluntary Counseling and Testing in Kinshasa were interviewed about HIV-related knowledge and behaviors at baseline and at 6- and 12-month follow-ups. Retention rates were 57% and 27% at 6- and 12-month follow up; 22% of participants attended both visits. Retention at 6-month was significantly associated with 12-month retention. Retention was associated with low economic status, being studying, daily/weekly Internet access, previous HIV tests and aiming to share HIV test with partner. Contrarily, perceiving a good health, living far from an antiretroviral center, daily/weekly alcohol consumption and perceiving frequent HIV information were inversely associated with retention. In conclusion, a high attrition was found among people attending HIV testing participating in a prospective cohort in Kinshasa. Considering the low retention rates and the predictors found in this study, more HIV cohort studies in Kinshasa need to be evaluated to identify local factors and strategies that could improve retention if needed.

El arribo de la teoría celular a Chile: Dr. Vicente Izquierdo Sanfuentes / Dr. Vicente Izquierdo Sanfuentes and the arrival of the cellular theory in Chile

Vicente Izquierdo Sanfuentes was a leading physician, researcher and academic of the School of Medicine of the University of Chile in the period 1881-1912. Dr. Izquierdo began his medical training at the Faculty of Medicine of the University of Chile (1872-1875) and then received a scholarship to continue his studies with the prominent researchers Wilhelm Hiss (1875-1877) at the University of Leipzig and Wilhelm Waldeyer at the University of Strasbourg (1877-1879) in Germany. After returning to Chile, he was appointed first professor of Histology (1881), initiating the first course of this subject in 1883. His main academic achievements and his foundational role in the origin and development of biology in Chile stand out in his work.

Correction to: Spatial Analysis of Presence, Injury, and Economic Impact of the Melolonthidae (Coleoptera: Scarabaeoidea) Complex in Avocado Crops.

In order to properly acknowledge the institute at which the research was performed, the affiliations of the authors should have been stated in full in the original publication.

Mutational Screening of BRCA1/2 Genes as a Predictive Factor for Therapeutic Response in Epithelial Ovarian Cancer: A Consensus Guide from the Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH).

Germline/somatic BRCA-mutated ovarian carcinomas (OC) are associated to have better response with platinum-based chemotherapy and long-term prognosis than non-BRCA-associated OCs. In addition, these mutations are predictive factors to response to Poly(ADP-ribose) polymerase (PARP) inhibitors. Different positioning papers have addressed the clinical recommendations for BRCA testing in OC. This consensus guide represents a collection of technical recommendations to address the detection of BRCA1/2 mutations in the molecular diagnostic testing strategy for OC. Under the coordination of Spanish Society of Pathology (SEAP-IAP) and the Spanish Society of Human Genetics (AEGH), these recommendations have been developed by pathologists and geneticists taking into account previously published recommendations and their experience in the molecular characterization of these genes. Since the implementation of BRCA testing as a predictive factor can initiate the workflow by testing germline mutations in the blood or by testing both germline and somatic mutations in tumor tissue, distinctive features of both strategies are discussed. Additionally, the recommendations included in this paper provide some references, quality parameters, and genomic tools aimed to standardize and facilitate the clinical genomic diagnosis of OC.

Consenso para el diagnóstico, tratamiento y seguimiento del paciente con distrofia muscular de Duchenne / Consensus on the diagnosis, treatment and follow-up of patients with Duchenne muscular dystrophy

Introducción: La distrofia muscular de Duchenne (DMD) es la miopatía más frecuente en niños, con una prevalencia mundial de aproximadamente 0,5 por cada 10.000 varones. Se caracteriza por una debilidad muscular progresiva al inicio de la infancia con aparición posterior de complicaciones musculoesqueléticas, respiratorias y cardíacas que ocasionan discapacidad, dependencia y muerte prematura. Actualmente su tratamiento se fundamenta en medidas sintomáticas multidisciplinares que han modificado favorablemente el curso de la enfermedad, por lo que resulta crucial establecer unas directrices claras y actualizadas que permitan tanto una detección temprana de la enfermedad como un adecuado tratamiento y seguimiento de sus posibles complicaciones. Desarrollo: Con el fin de obtener una visión general de los aspectos abordados por las guías actuales y detectar aquellos en los que todavía no existe un consenso y su abordaje sea relevante, se realizó una revisión de la literatura en la base de datos biomédicas de los últimos 10 años. El grado de evidencia y el nivel de recomendación de la información obtenida se clasificaron y ordenaron de acuerdo con los criterios de la American Academy of Neurology (AAN). Conclusiones: El abordaje de la DMD debe ser multidisciplinar y ajustado al perfil del paciente y su grado de evolución clínica, comprendiendo, además del tratamiento basado en corticoides, medidas a nivel gastrointestinal, respiratorio, cardiaco, fisioterapéutico y ortopédico dirigidas a mejorar la calidad de vida de los pacientes. Los estudios genéticos desempeñan un papel clave en el manejo de la enfermedad, tanto en la detección de casos y posibles portadoras como en la caracterización de la mutación implicada y el desarrollo de nuevas terapias

Introduction: Duchenne muscular dystrophy (DMD) is the most common myopathy in children, with a worldwide prevalence of approximately 0.5 cases per 10,000 male births. It is characterised by a progressive muscular weakness manifesting in early childhood, with the subsequent appearance of musculoskeletal, respiratory, and cardiac complications, causing disability, dependence, and premature death. Currently, DMD is mainly managed with multidisciplinary symptomatic treatment, with favourable results in terms of the progression of the disease. It is therefore crucial to establish clear, up-to-date guidelines enabling early detection, appropriate treatment, and monitoring of possible complications. Development: We performed a literature search of the main biomedical databases for articles published in the last 10 years in order to obtain an overview of the issues addressed by current guidelines and to identify relevant issues for which no consensus has yet been established. The degree of evidence and level of recommendation of the information obtained were classified and ordered according to the criteria of the American Academy of Neurology. Conclusions: DMD management should be multidisciplinary and adapted to the patient's profile and the stage of clinical progression. In addition to corticotherapy, treatment targeting gastrointestinal, respiratory, cardiac, and orthopaedic problems, as well as physiotherapy, should be provided with a view to improving patients' quality of life. Genetic studies play a key role in the management of the disease, both in detecting cases and potential carriers and in characterising the mutation involved and developing new therapies

Spatial Analysis of Presence, Injury, and Economic Impact of the Melolonthidae (Coleoptera: Scarabaeoidea) Complex in Avocado Crops.

Beetle insect species classified within the Melolonthidae complex (Coleoptera: Scarabaeoidea) are a serious pest in several crops around the world including avocado (Persea americana Mill). The present work focused on determining the spatial behavior of the Melolonthidae complex of beetles and determined the economic impact in avocado crops in Antioquia, Colombia, South America. Beetle presence and damage produced in both foliage and fruits were quantified during 3 years for each avocado tree tested in two planted lots located in different places. The indexes of Cambardella, Morisita, and economic losses were calculated with data obtained. Our results strongly suggest that beetles present an isotropic movement in the lots with the damage beginning by the borders. Once insects enter the lots, they move in any direction inside the crop area with weak or moderate spatial dependence and low or null aggregation. Strong preference for fruits rather than foliage was observed. Economic analysis indicates that damage in fruit skin causes major losses. From observed results, it is proposed that integrated pest control should be directed mainly to fruits from the very early stages of growth and development and traps should be localized strategically and following the spatial and temporal distribution of insects for both prevention and control.

Efficiency of pilot-scale horizontal subsurface flow constructed wetlands and microbial community composition operating under tropical conditions.

This study assesses the microbial diversity of Thalia geniculate (L.) and Cyperus articulates (L.) in the rhizosphere in planted and unplanted systems with respect to removal efficiency in an experimental horizontal sub-surface constructed wetland pilot plant. The pilot-scale units consisted of six (6) cells of concrete of 0.94 × 0.6 × 0.4 m arranged in a parallel configuration. 29 L d-1 were distributed to the cells by gravity. The hydraulic retention time was 3 days and influent and effluent measurements of COD and nutrients were monitored with standard methodology. Bacteria samples were isolated from the roots of plants and gravel in selective media and incubated at 37 °C. Isolates were biochemically characterized and genotyped with group-specific primers. Results showed that systems planted with T. geniculata removed greater proportions of COD (82%), NH4+-N (83%) and PO42-P (83%) than C. articulatus (85, 74 and 72%, respectively) and unplanted wetland systems (80, 72 and 66%, respectively). Bacterial typing revealed several phyla were most abundant, α-Proteobacteria followed by ß-Proteobacteria and there was a significant difference (p < 0.05) in CFU between planted and unplanted treatments. The bacterial community varied with respect to plant species or unplanted and demonstrated significant effects to contaminants removal efficiency.