Influencia de la capacidad manipulativa en la calidad de vida y actividades de la vida diaria en la esclerosis múltiple / Influence of manipulative skills on quality of life and activities of daily living in multiple sclerosis

Introducción: Más de un 50% de los pacientes diagnosticados con esclerosis múltiple (EM) comunican problemas con la función manipulativa e impedimentos en su vida diaria a causa de esta alteración. Por ello, el objetivo del presente estudio es determinar la afectación que la fuerza de pinza, la fuerza de presa y la destreza manipulativa ejercen sobre la calidad de vida y la autonomía personal de las personas diagnosticadas de EM, y estudiar si existe diferencia de estos aspectos entre los distintos tipos de esta enfermedad. Sujetos y métodos: Se contó con una muestra total de 126 participantes, de los cuales 57 fueron controles, y 69, casos. A todos ellos se les evaluó con el Multiple Sclerosis Quality of Life-54, el Nine-Hole Peg Test, la dinamometría de pinza y de presa para la medición de la fuerza, y el índice de Barthel para la evaluación de las actividades básicas de la vida diaria. Resultados: Las personas con EM presentaron peores fuerza de pinza, fuerza de presa, destreza manipulativa, desempeño en actividades básicas de la vida diaria y calidad de vida (p < 0,001). La fuerza de presa es un factor condicionante en el desempeño de actividades básicas y calidad de vida en personas con EM. En cuanto al tipo de EM, el tipo remitente-recurrente presentó mejores valores (p < 0,001).Conclusiones: Los hallazgos de este estudio apuntan a que los pacientes diagnosticados con EM presentan una disminución en la fuerza de pinza, la fuerza de presa, la destreza manipulativa, la calidad de vida y la autonomía en las actividades de la vida diaria en comparación con la población sana.(AU)

Introduction: More than 50% of patients diagnosed with multiple sclerosis report problems with manipulative function and impairments in their daily lives due to this disorder. Therefore, the aim of the present study is to determine how pinch strength, prey strength and manipulative dexterity affect the quality of life and personal autonomy of people diagnosed with multiple sclerosis and to study whether there is a difference in these aspects between different types of multiple sclerosis.Subjects and methods: There was a total sample of 126 participants, of which 57 were controls and 69 cases. All of them were assessed with a Multiple Sclerosis Quality of Life-54 test, Nine-Hole Peg Test and Barthel Index.Results: People with multiple sclerosis have worse pinch strength, prey strenght, manipulative dexterity, performance in basic activities of daily living and quality of life (p < 0.001). Prey strength is a conditioning factor for performance and quality of life in people with multiple sclerosis. As for the type of multiple sclerosis, relapsing-remitting multiple sclerosis presented better values (p < 0.001).Conclusions: The findings of this study point to the fact that patients diagnosed with multiple sclerosis have a decrease in prey strength, pinch strength, manipulative dexterity, quality of life and autonomy in activities of daily living compared to the healthy population.(AU)

Leisure Attitude, Self-Rated Health, and Psychological Well-Being in Older Adults: A Moderated Mediation Model.

Purpose: A positive leisure attitude among older adults may have a beneficial effect on psychological well-being, both directly and indirectly by fostering a more positive perception of one's health. This paper presents a correlational design that explores associations among leisure attitude, self-rated health, and psychological well-being, and analyzes the potential moderating role of gender in these relationships. Patients and Methods: The sample was selected using simple random probability sampling (N= 409; 61.9% female; Mean age = 72.9; SD = 8.43¸ Range of age 53 to 93 years). Diverse sociodemographic information was collected, and leisure attitudes, self-perceived health, and psychological well-being (positive affect and emotional ties) were assessed. Results: The results revealed a positive effect of leisure attitude on self-rated health and psychological well-being, with self-rated health fully mediating the association between the behavioral component of leisure attitude and psychological well-being. Furthermore, the moderating effect of gender on the relationship between self-rated health and psychological well-being was stronger among men. Conclusion: Positive cognitive and emotional perceptions of leisure among older adults seem to benefit psychological well-being and improve self-rated health, thereby contributing to healthy ageing.

Azithromycin and moxifloxacin resistance determinants in Mycoplasma genitalium in Lleida, Spain.

OBJECTIVE: Mycoplasma genitalium (MG) is a microorganism related to sexually transmitted infections. Antibiotic resistance of MG leads to an increase in treatment failure rates and the persistence of the infection. The aim of this study was to describe the most frequent mutations associated with azithromycin and moxifloxacin resistance in our geographical area. METHODS: A prospective study from May 2019 to May 2023 was performed. MG-positive samples were collected. Real-time PCRs (AllplexTM MG-AziR Assay and AllplexTM MG-MoxiR Assay, Seegene) were performed in MG positive samples to detect mutations in 23S rRNA V domain and parC gene. RESULTS: A 37.1% of samples presented resistance determinants to azithromycin and the most common mutation detected was A2059G (57.9%). Resistance to moxifloxacin was studied in 72 azithromycin-resistant samples and 36.1% showed mutations, being G248T the most prevalent (73.1%). CONCLUSIONS: The resistance to different lines of treat ment suggests the need for a targeted therapy and the performing of a test of cure afterwards.

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.

Global spread, genetic differentiation and selection of barley spot form of net blotch isolates.

Spot form of net blotch, caused by Pyrenophora teres f. maculata, is a significant necrotrophic disease of barley that spread world-wide in the 20th century. Genetic relationships were analysed to determine the diversity, survival and dispersal of a diverse collection of 346 isolates from Australia, Southern Africa, North America, Asia Minor and Europe. The results, based on genome-wide DArTseq data, indicated isolates from Turkey were the most differentiated with regional sub-structuring, together with individuals closely related to geographically distant genotypes. Elsewhere, population subdivision related to country of origin was evident, although low levels of admixturing was found that may represent rare genotypes or migration from unsampled populations. Canadian isolates were the next most diverged and Australian and South African the most closely related. With the exception of Turkish isolates, multiple independent Cyp51A mutation events (which confer insensitivity to demethylation inhibitor fungicides) between countries and within regions was evident, with strong selection for a transposable element insertion at the 3' end of the promoter and counter-selection elsewhere. Individuals from Western Australia shared genomic regions and Cyp51A haplotypes with South African isolates, suggesting a recent common origin.

Influence of manipulative skills on quality of life and activities of daily living in multiple sclerosis. / Influencia de la capacidad manipulativa en la calidad de vida y actividades de la vida diaria en la esclerosis múltiple.

INTRODUCTION: More than 50% of patients diagnosed with multiple sclerosis report problems with manipulative function and impairments in their daily lives due to this disorder. Therefore, the aim of the present study is to determine how pinch strength, prey strength and manipulative dexterity affect the quality of life and personal autonomy of people diagnosed with multiple sclerosis and to study whether there is a difference in these aspects between different types of multiple sclerosis. SUBJECTS AND METHODS: There was a total sample of 126 participants, of which 57 were controls and 69 cases. All of them were assessed with a Multiple Sclerosis Quality of Life-54 test, Nine-Hole Peg Test and Barthel Index. RESULTS: People with multiple sclerosis have worse pinch strength, prey strenght, manipulative dexterity, performance in basic activities of daily living and quality of life (p < 0.001). Prey strength is a conditioning factor for performance and quality of life in people with multiple sclerosis. As for the type of multiple sclerosis, relapsing-remitting multiple sclerosis presented better values (p < 0.001). CONCLUSIONS: The findings of this study point to the fact that patients diagnosed with multiple sclerosis have a decrease in prey strength, pinch strength, manipulative dexterity, quality of life and autonomy in activities of daily living compared to the healthy population.

TITLE: Influencia de la capacidad manipulativa en la calidad de vida y actividades de la vida diaria en la esclerosis múltiple.Introducción. Más de un 50% de los pacientes diagnosticados con esclerosis múltiple (EM) comunican problemas con la función manipulativa e impedimentos en su vida diaria a causa de esta alteración. Por ello, el objetivo del presente estudio es determinar la afectación que la fuerza de pinza, la fuerza de presa y la destreza manipulativa ejercen sobre la calidad de vida y la autonomía personal de las personas diagnosticadas de EM, y estudiar si existe diferencia de estos aspectos entre los distintos tipos de esta enfermedad. Sujetos y métodos. Se contó con una muestra total de 126 participantes, de los cuales 57 fueron controles, y 69, casos. A todos ellos se les evaluó con el Multiple Sclerosis Quality of Life-54, el Nine-Hole Peg Test, la dinamometría de pinza y de presa para la medición de la fuerza, y el índice de Barthel para la evaluación de las actividades básicas de la vida diaria. Resultados. Las personas con EM presentaron peores fuerza de pinza, fuerza de presa, destreza manipulativa, desempeño en actividades básicas de la vida diaria y calidad de vida (p < 0,001). La fuerza de presa es un factor condicionante en el desempeño de actividades básicas y calidad de vida en personas con EM. En cuanto al tipo de EM, el tipo remitente-recurrente presentó mejores valores (p < 0,001). Conclusiones. Los hallazgos de este estudio apuntan a que los pacientes diagnosticados con EM presentan una disminución en la fuerza de pinza, la fuerza de presa, la destreza manipulativa, la calidad de vida y la autonomía en las actividades de la vida diaria en comparación con la población sana.

Survival among treated tongue cancer patients: a single-center experience.

OBJECTIVE: To describe overall survival (OS) and disease-free survival (DFS) in a cohort of tongue cancer patients, together with the corresponding demographic, tumor and surgical characteristics. METHODS: A retrospective study was made of 205 consecutive patients with primary tongue cancer subjected to surgery and adjuvant therapy according to the stage of the disease, in Hospital Clínico Universitario Virgen de la Arrixaca (HUVA) (Murcia, Spain) during the period 2000-2020. Survival was evaluated based on the Kaplan-Meier method, and the existence of significant differences between the different study variables was analyzed using the log-rank test. Cox regression analysis was performed for the identification of risk factors. RESULTS: In relation to overall survival, 72.6% of the patients survived for a mean time of 14.43 years [standard error (SE) = 0.74; 95% CI: 12.98-15.87], with a cumulative survival rate of 49.8 ± 3%. Survival was reduced by the presence of tumor adjacent to resection margins [hazard ratio (HR) 2.20; 95% CI 1.09-4.43] (p = 0.028) and infiltrated resection margins (HR 3.86, 95% CI 1.56-9.57) (p = 0.004). Lymphadenectomy in turn increased survival (HR 0.15; 95% CI 0.06-0.42) (p < 0.001). In relation to disease-free survival, 55.3% of the patients suffered no relapse over a mean period of 9.91 years (SE = 0.66; 95% CI: 8.61-11.2), with a cumulative survival rate of 26.6% ± 8.4%. CONCLUSIONS: In tongue cancer patients, overall and specific survival were reduced in the presence of infiltrated resection margins. Lymphadenectomy in turn improved survival compared with patients in which this procedure was not carried out.

Development and validation of an alternative procedure for quantitative quality control analysis of 99mTc-radiopharmaceuticals using a Geiger Müller counter.

BACKGROUND AND OBJECTIVES: In a hospital radiopharmacy with 2a operational level, including the preparation of radiopharmaceuticals from prepared and approved reagent kits, it is common to have a single activimeter or dose calibrator for labeling and fractionation, and to perform the quality controls of the 99mTc-radiopharmaceuticals. In certain cases, the accumulation of radioactive material or accidental contamination of the work area causes the background to exceed the limits to carry out the radiochemical purity analyses and it is necessary to look for viable alternatives. In this work, a Geiger Müller detector (equipped with a probe for measuring surface contamination) frequently used for radioprotection purposes, was validated as an alternative and its performance was compared against the activimeter for 99mTc-radiopharmaceuticals. MATERIALS AND METHODS: Using [99mTc]pertechnetate, systematic studies of error analyses and detector response to activity concentration, activity and measurement time were carried out in liquid matrices and in paper. The results were compared against an activimeter calibrated for [99mTc]Tc. RESULTS: The developed method was used to determine the radiochemical purity of the compounds [99mTc]Tc-MDP and [99mTc]Tc-MIBI by ascending paper chromatography tests, obtaining comparable values to those measured with an activimeter in the same system (within 1% uncertainty) and using the method of vial partitioning in a dedicated equipment. CONCLUSIONS: This work demonstrates that a Geiger Müller detector with a probe for measuring surface contamination can be adequately used to replace other equipment in the control of radiochemical purity in the hospital radiopharmacy.

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

Introducción: El curso de Asistencia Inicial al Trauma Pediátricose imparte en España desde 1997, existiendo en la actualidad 9 centrosformadores acreditados. La asistencia al paciente pediátrico politraumatizado se produce muchas veces en un ambiente proclive al errorpor olvido, por lo que las listas de verificación, como herramientasmnemotécnicas de amplia difusión en la industria y en medicina, serían especialmente útiles para evitarlos. Aunque existen varias listas deverificación para la asistencia al traumatismo pediátrico, ninguna se hadesarrollado en el entorno de nuestro curso. Material y métodos: Se acordaron los criterios para ser seleccionado como experto en Asistencia Inicial al Trauma Pediátrico con lacomisión científica de politrauma de la Sociedad Española de CirugíaPediátrica. Los ítems para formar la lista de verificación se obtuvierona partir de una revisión bibliográfica y de la consulta a los expertosseleccionados, empleando un método Delphi. Resultados. Se seleccionaron 10 expertos que representan los 9grupos o centros formadores en Asistencia Inicial al Trauma Pediátri-co y se elaboró una lista de verificación con 28 ítems, siguiendo susrecomendaciones de diseño. Conclusiones: Se diseñó una lista de verificación para el manejodel paciente pediátrico politraumatizado, con el consenso de todos losgrupos empleando un método Delphi, requisito fundamental para facilitarla difusión de esta lista. Sería preciso adaptar y validar dicha lista parasu uso en cada centro asistencial.(AU)

Introduction: The course in Primary Care in Pediatric Trauma(ATIP in Spanish) has been taught in Spain since 1997, and there arecurrently 9 accredited training centers. Care of polytraumatized pedi-atric patients often takes place in an environment conducive to errorsresulting from forgetfulness, which is why checklists –mnemonic toolswidely used in industry and medicine– are particularly useful to avoidsuch 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 expertin 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 ofthe literature and consultation with selected experts, using the DelphiTechnique. Results: 10 experts representing the 9 groups or training centers inPrimary Care in Pediatric Trauma were selected, and a 28-item checklistwas drawn up in accordance with their design recommendations.Conclusions: With the consensus of all the groups, a checklist forthe treatment of polytraumatized pediatric patients was drawn up usingthe Delphi Technique, an essential requirement for the disseminationof this checklist, which should be adapted and validated for use in eachhealthcare center.(AU)

Actitud de los fisioterapeutas acerca del acceso directo y su implementación a través de un cambio en la política pública en Puerto Rico / Attitude of physiotherapists about direct access and its implementation through a change in public policy in Puerto Rico

Objetivos: Explorar las actitudes de los fisioterapeutas de Puerto Rico: 1) hacia el acceso directo (AD), 2) las implicaciones para la profesión, la práctica y los servicios de salud, y 3) la implementación del AD a través de un cambio en política pública. Métodos: El diseño fue exploratorio transversal, no experimental y con un enfoque cuantitativo. Los participantes eran fisioterapeutas con licencia vigente, mayores de 21 años de edad, con cualquier grado académico en fisioterapia y que actualmente ejercen la práctica en Puerto Rico. Fueron excluidos fisioterapeutas sin experiencia clínica, que estaban completando un grado doctoral transicional o con experiencia ejerciendo con AD. Para abordar los objetivos de investigación, se construyó un cuestionario, cuyo contenido fue validado por 4 fisioterapeutas expertos utilizando el modelo de Lawshe modificado por Tristán. Resultados: Participaron de este estudio 100 fisioterapeutas. El 96% de los participantes estuvo de acuerdo con la implementación del AD en Puerto Rico. El 83% indicó estar preparado para ejercer la profesión por AD. El 55% entienden que fisioterapeutas con grado doctoral están más preparados para ejercer por AD. El 59% indicó que el AD debe estar restringido por nivel educativo y/o experiencia. Conclusión: La actitud de los fisioterapeutas en Puerto Rico respecto al AD resultó ser favorable, independientemente del grado académico, ya que están a favor con incorporar el AD a la fisioterapia, se sienten preparados para ejercer por AD y consideran el AD beneficioso para los pacientes, la práctica y la profesión. (AU)

Objectives: To explore the attitudes of physiotherapists in Puerto Rico: (1) towards direct access (DA), (2) the implications for the profession, practice, and health services, and (3) the implementation of DA through a change in public policy. Methods: The design was cross-sectional exploratory, non-experimental, and quantitative in nature. Participants were licensed physiotherapists, over 21 years old, with any academic degree in physiotherapy, currently practicing in Puerto Rico. Physiotherapists without clinical experience, those completing a transitional doctoral degree, or with experience practicing with DA were excluded. To address the research objectives, a questionnaire was constructed, whose content was validated by 4 expert physiotherapists using the Lawshe model modified by Tristán. Results: One hundred physiotherapists participated in this study. 96% of participants agreed with the implementation of DA in Puerto Rico. However, only 83% indicated being prepared to practice the profession through DA. 55% understood that physiotherapists with doctoral degrees were better prepared to practice through DA. 59% indicated that DA should be restricted based on educational level and/or experience. Conclusion: The attitude of physiotherapists in Puerto Rico towards DA was favorable regardless of academic degree. They are in favor of incorporating DA into physiotherapy, feel prepared to practice through DA, and consider it beneficial for patients, practice, and the profession. (AU)

[Usefulness of the MPB-INFURG-SEMES model to predict bacteremia in the patient with solid tumor in the Emergency Department]. / Utilidad del modelo MPB-INFURG-SEMES para predecir bacteriemia en el paciente con neoplasia sólida en el Servicio de Urgencias.

OBJECTIVE: To analyse a new risk score to predict bacteremia (MPB-INFURG-SEMES) in the patients with solid tumor attender for infection in the emergency departments (ED). METHODS: Prospective, multicenter observational cohort study of blood cultures (BC) obtained from adult patients with solid neoplasia treated in 63 EDs for infection from November 1, 2019, to March 31, 2020. The predictive ability of the model was analyzed with the area under the Receiver Operating Characteristic curve (AUC-ROC). The prognostic performance for true bacteremia was calculated with the chosen cut-off for getting the sensitivity, specificity, positive predictive value and negative predictive value. RESULTS: A total of 857 blood samples wered cultured. True cases of bacteremia were confirmed in 196 (22.9%). The remaining 661 cultures (77.1%) wered negative. And, 42 (4.9%) were judged to be contaminated. The model's area under the receiver operating characteristic curve was 0.923 (95% CI,0.896-0.950). The prognostic performance with a model's cut-off value of ≥ 5 points achieved 95.74% (95% CI, 94,92-96.56) sensitivity, 76.06% (95% CI, 75.24-76.88) specificity, 53.42%(95% CI, 52.60-54.24) positive predictive value and 98.48% (95% CI, 97.66- 99.30) negative predictive value. CONCLUSIONS: The MPB-INFURG-SEMES score is useful for predicting bacteremia in the adults patients with solid tumor seen in the ED.

Vitamin D and risk of developing type 2 diabetes in the SUN project: a prospective cohort study.

PURPOSE: Vitamin D deficiency has been associated with multiple chronic diseases, including metabolic disorders such as insulin resistance and type 2 diabetes (T2D). The aim of the study was to analyze the association between validated predicted serum vitamin D status and the risk of developing T2D in a large prospective cohort based on a Mediterranean population. METHODS: The SUN project is a prospective and dynamic Spanish cohort that gathers university graduates who have answered lifestyle questionnaires, including a validated Food Frequency Questionnaire. The association between predicted serum vitamin D and the risk of T2D was assessed through Cox regression models according to quartiles (Q) of predicted vitamin D at baseline. The models were adjusted for potential confounders and sensitivity analyses were performed to ensure the robustness of our findings. RESULTS: Our study included a total of 18,594 participants and after a total follow-up of 238,078 person-years (median follow-up of 13.5 years), 209 individuals were diagnosed with incident T2D. We found a significant inverse association between predicted levels of serum vitamin D and the risk of developing T2D, after adjusting for potential confounders and performing different sensitivity analyses (hazard ratio Q4 vs. Q1: 0.48, 95% CI 0.26-0.88; p for trend = 0.032). CONCLUSION: The outcomes suggest that higher levels of vitamin D at baseline may be associated with a reduced risk of developing T2D.

Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease.

INTRODUCTION: Charcot-Marie-Tooth (CMT) disease is classified considering the neurophysiological and histological findings, the inheritance pattern and the underlying genetic defect. In recent years, with the advent of next generation sequencing, genetic complexity has increased exponentially, expanding the knowledge about disease pathways, and having an impact in clinical management. The aim of this guide is to offer recommendations for the diagnosis, prognosis, monitoring and treatment of this disease in Spain. MATERIAL AND METHODS: This consensus guideline has been developed by a multidisciplinary panel encompassing a broad group of professionals including neurologists, neuropediatricians, geneticists, rehabilitators, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis is based in the clinical characterization, usually presenting with a common phenotype. It should be followed by an appropriate neurophysiological study that allows for a correct classification, specific recommendations are established for the parameters that should be included. Genetic diagnosis must be approached in sequentially, once the PMP22 duplication has been ruled out if appropriate, a next generation sequencing should be considered taking into account the limitations of the available techniques. To date, there is no pharmacological treatment that modifies the course of the disease, but symptomatic management is important, as are the rehabilitation and orthopaedic considerations. The latter should be initiated early to identify and improve the patient's functional impairments, including individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transpositions. The follow-up of patients with CMT is exclusively clinical, ancillary testing are not necessary in routine clinical practice.

Structural and chemical properties of anion exchanged CsPb(Br(1-x)Clx)3heterostructured perovskite nanowires imaged by nanofocused x-rays.

Over the last years metal halide perovskites have demonstrated remarkable potential for integration in light emitting devices. Heterostructures allow for tunable bandgap depending on the local anion composition, crucial for optoelectronic devices, but local structural effects of anion exchange in single crystals is not fully understood. Here, we investigate how the anion exchange of CsPbBr3nanowires fully and locally exposed to HCl vapor affects the local crystal structure, using nanofocused x-rays. We study the nanoscale composition and crystal structure as function of HCl exposure time and demonstrate the correlation of anion exchange with changes in the lattice parameter. The local composition was measured by x-ray fluorescence and x-ray diffraction, with general agreement of both methods but with much less variation using latter. The heterostructured nanowires exhibit unintentional gradients in composition, both axially and radially. Ferroelastic domains are observed for all HCl exposure times, and the magnitude of the lattice tilt at the domain walls scales with the Cl concentration.

Development of functional consortia for the pretreatment of compostable lignocellulosic waste: A simple and effective solution to a large-scale problem.

Microorganisms drive the degradation of organic matter thanks to their enzymatic versatility. However, the structure of lignocellulose poses a great challenge for the microbiota inhabiting a compost pile. Our purpose was to increase the biodegradability of vegetable waste in the early stages of the composting process by applying a microbial consortium with lignocelllulolytic capacity. For this, a previous screening was performed among the culturable microbiota from different composting processes to find inoculants with ligninocellulolytic activity. Selected strains were applied as a pure culture and as a microbial consortium. The starting material was composed of tomato plant and pruning remains mixed in a ratio (50:50 v/v), whose humidity was adjusted to around 65%. To determine the ability of both treatments to activate the biodegradation of the mixtures, moisture, organic matter, ash, C/N ratio, 4-day cumulative respirometric index (AT4) and degradation rates of cellulose, hemicellulose and lignin were evaluated. Subsequently, a real composting process was developed in which the performance of the microbial consortium was compared with the composting process without inoculum (control). According to our tests, three microbial strains (Bacillus safensis, Bacillus licheniformis and Fusarium oxysporum) were selected. The results showed that the application of the bacteria strains at low doses (104 CFU g-1 on the complete residual material of the pile) resulted in higher rates of lignocelullose degradation after 10 days of treatment compared to that observed after application of the fungus in pure culture or untreated controls. The implementation of the strategy described in this work resulted in obtaining compost with better agronomic quality than the uninoculated controls. Therefore, the application of this consortium could be considered as an interesting tool for bioactivation of lignocellulosic waste prior to the composting process.

Mutational Profile and Retinal Phenotypes of PCARE-Related Cone-Rod Dystrophies in a Mexican Cohort.

Purpose: The aim of the study is to describe the genotype and phenotype of a Mexican cohort with PCARE-related retinal disease. Methods: The study included 14 patients from 11 unrelated pedigrees with retinal dystrophies who were demonstrated to carry biallelic pathogenic variants in PCARE. Visual assessment methods included best corrected visual acuity, color fundus photography, Goldmann visual field test, kinetic perimetry, dark/light adapted chromatic perimetry, full-field electroretinography, autofluorescence imaging, and spectral domain-optical coherence tomography imaging. Genetic screening was performed either by gene panel sequencing or by exome sequencing. Results: According to the results of multimodal imaging and functional tests, all 14 patients were diagnosed with cone-rod dystrophy. Six different PCARE pathogenic alleles were identified in our cohort, including three novel mutations: c.3048_3049del (p.Tyr1016∗), c.3314_3315del (p.Ser1105∗), and c.551A > G (p.His184Arg). Notably, alleles p.His184Arg, p.Arg613∗, and p.Arg984∗ were present in 18 of the 22 (82%) PCARE alleles from probands in our cohort. Conclusion: Our work expands the PCARE mutational profile by identifying three novel pathogenic variants causing retinal dystrophy. While phenotypic variations occurred among patients, a cone-rod dystrophy pattern was observed in all affected individuals.