Simulation of a scintillator-based fast ion loss detector for steady-state operation in Wendelstein 7-X (invited).

A quantitative theoretical framework has been created to model neutral beam injection and fast ion losses in the Wendelstein 7-X (W7-X) stellarator, including a novel method to develop synthetic diagnostics for fast ion loss detectors (FILDs) of many types, such as scintillating and Faraday Cup FILDs. This is the first time that this has been done in stellarator geometry with this level of fidelity, providing a way for fast ion losses to be predicted more precisely in future stellarator experiments and in W7-X. Simulations of the signal seen by a Faraday Cup FILD have been completed for multiple W7-X plasmas and show close agreement with the measured signals. This method is now applied to an actively water-cooled, scintillator-based FILD, which is currently in development to measure the fast ion loss distribution in W7-X in greater detail. The design makes use of a double slit to measure energy-and-pitch-angle-resolved losses of both co-going and counter-going fast ions. The diagnostic, which can be inserted to different radial positions, has been designed to withstand steady-state heat fluxes of up to 120 kW/m2 along with additional transient heat loads of 100 kW/m2 lasting for up to 20 s at a time. Simulations of W7-X standard magnetic configuration show up to 8 × 1013 (s-1 cm-2) ion fluxes onto the sensor from each neutral beam source and no signal from the counter-going slit. These simulations will help inform experimental proposals for future W7-X campaigns after installation of this diagnostic.

A pain in the pocket: Prevalence of pocket pain in patients with implantation of neuromodulation systems: A retrospective study.

INTRODUCTION: Implantable pulse generator (IPG) is a neurostimulation therapy mediated by electrodes and surgically implanted in a subcutaneous "pocket" used for the control of numerous pathologies. This study examines both the prevalence of pain associated with IPG implantation ("pain pocket syndrome") and its associated characteristics. MATERIALS AND METHODS: 56 patients with an IPG were included in the study. A health questionnaire was conducted to determine the presence of pain associated with the pocket and its neuropathic characteristics, as well as associated aesthetic concerns, location, situations that accentuate or alleviate pain, medications used for baseline and pocket pain control and other factors associated. RESULTS: Pain in the area of implantation of the IPG had a prevalence of 52.6% of patients (n = 27), in our sample, with a mean score on the visual analogic scale (VAS) of 4.9 points [3.9-5.8 points], with neuropathic characteristics in 53.3% (n = 16) of the patients with pain, with differences between the mean VAS score of the female (5.5 [4.3-5.8 points]) and males (3.5 points [2.1-4.9 points]) (p = 0.04). CONCLUSION: Pocket pain is a condition with a higher prevalence than described in previous studies, being of a higher intensity in females, involving a moderate pain in the area of implantation of the neuromodulating therapy. This pain has neuropathic characteristics and could require a repositioning intervention. Hence, more studies in this field should be carried to detect and prevent this syndrome.

Relationship between foliar polycyclic aromatic hydrocarbons (PAHs) concentrations and plant traits: Intracanopy variability for a broadleaf species in an urban environment.

The emission of potentially harmful compounds, including polycyclic aromatic hydrocarbons (PAHs), and the resulting air pollution is a serious problem in modern cities. It is therefore important to develop mitigation strategies, such as "smart" planting of trees that act as sinks for PAHs. However, the intra-individual (within-tree) variability in leaf PAH concentrations remains unknown. In this paper, we studied 15 ornamental apple trees (Malus × moerlandsii 'Profusion') growing on a main street in a medium-sized city in Galicia (NW Spain). We determined the PAH concentrations at 12 canopy positions in each tree (2 orientations and 2 distances from the trunk at 3 heights), measured various ecological traits (specific leaf area [SLA], δ13C, stomatal density, fatty acid contents and leaf hairiness) and analyzed the variability in traits within the canopy in relation to PAH concentrations. We observed high intra-individual variability in the PAH concentrations and the leaf traits. Statistical analyses revealed that leaf height was the main source of variability both in the PAH concentrations and in the traits, mainly due to the leaf morphology, particularly to the SLA. Therefore, the ideal vegetation to remove PAHs would be high leaf biomass trees, not too tall and with a high proportion of shade leaves.

Concurrent uper limb and hip fracture in the elderly: experience at our centre. / Fracturas concomitantes de miembro superior y cadera en pacientes mayores de 65 años: experiencia en nuestro centro.

INTRODUCTION: The incidence of hip fracture in the elderly is on the rise, occasionally accompanied by concurrent upper limb fractures. Our investigation aims to determine whether these patients experience poorer functional outcomes, prolonged hospitalization, or higher mortality rates when compared to those with isolated hip fracture. MATERIAL AND METHODS: We retrospectively reviewed 1,088 elderly patients admitted to our centre with hip fracture between January 2017 and March 2020. We recorded the presence of concomitant fractures and their treatment. We analyzed the duration of hospital stay, in-hospital mortality and function. RESULTS: We identified 63 patients with concomitant upper limb fracture (5.6%). Among them, 93.7% were women, and the average age was 86.4 years. 80.9% of the upper limb fractures were distal radius or proximal humerus. Patients with concomitant fracture had increased length of stay (mean, 19.6 vs, 12.8, p=0.002), decreased proportion of patients returning to their own home at discharge (23.6% vs, 26.3%, p=0.042) and increased in-hospital mortality rate (9.5% vs, 5.9%, p=0.003). CONCLUSIONS: Patients with concomitant upper limb fracture require a longer length of stay and exhibit an elevated in-hospital mortality rate. Furthermore, this condition is associated with a reduced short-term functional recovery, thereby decreasing the chances of the patient returning home upon hospital discharge.

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

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

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

Shaping single crystalline BaTiO3nanostructures by focused neon or helium ion milling.

The realization of perovskite oxide nanostructures with controlled shape and dimensions remains a challenge. Here, we investigate the use of helium and neon focused ion beam (FIB) milling in an ion microscope to fabricate BaTiO3nanopillars of sub-500 nm in diameter starting from BaTiO3(001) single crystals. Irradiation of BaTiO3with He ions induces the formation of nanobubbles inside the material, eventually leading to surface swelling and blistering. Ne-FIB is shown to be suitable for milling without inducing surface swelling. The resulting structures are defect-free single crystal nanopillars, which are enveloped, on the top and lateral sidewalls, by a point defect-rich crystalline region and an outer Ne-rich amorphous layer. The amorphous layer can be selectively etched by dipping in diluted HF. The geometry and beam-induced damage of the milled nanopillars depend strongly on the patterning parameters and can be well controlled. Ne ion milling is shown to be an effective method to rapidly prototype BaTiO3crystalline nanostructures.

What potential do mosses have as biomonitors of POPs? A comparative study of hexachlorocyclohexane sorption.

Persistent organic pollutants (POPs) pose a significant global threat to human health and the environment, and require continuous monitoring due to their ability to migrate long distances. Active biomonitoring using cloned mosses is an inexpensive but underexplored method to assess POPs, mainly due to the poor understanding of the loading mechanisms of these pollutants in mosses. In this work, Fontinalis antipyretica (aquatic moss) and Sphagnum palustre (terrestrial moss) were evaluated as potential biomonitors of hexachlorocyclohexanes (HCHs: α-, ß-, γ-, δ-HCH), crucial POPs. Moss clones, grown in photobioreactors and subsequently oven-dried, were used. Their lipid composition and distribution were characterized through molecular and histochemical studies. Adsorption experiments were carried out in the aqueous phase using the repeated additions method and in the gas phase using an active air sampling technique based on solid-phase extraction, a pioneering approach in moss research. F. antipyretica exhibited greater lipid content in the walls of most cells and higher adsorption capacity for all HCH isomers in both gaseous and liquid environments. These findings highlight the need for further investigation of POP loading mechanisms in mosses and open the door to explore other species based on their lipid content.

PICO questions and DELPHI methodology for improving the management of patients with acute hepatic porphyria.

BACKGROUND: Acute hepatic porphyrias (AHPs) are a group of rare diseases that encompasses acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and 5-aminolaevulinic acid dehydratase deficiency porphyria. Symptoms of AHP are nonspecific which, together with its low prevalence, difficult the diagnosis and follow-up of these patients. MATERIAL AND METHODS: This project used DELPHI methodology to answer PICO questions related to management of patients with AHPs. The objective was to reach a consensus among multidisciplinary porhyria experts providing answers to those PICO questions for improving diagnosis and follow-up of patients with AHP. RESULTS: Ten PICO questions were defined and grouped in four domains: 1. Biochemical diagnosis of patients with AHP. 2. Molecular tests for patients with AHP. 3. Follow-up of patients with AHP. 4. Screening for long-term complications of patients with AHP. CONCLUSIONS: PICO questions and DELPHI methodology have provided a consensus on relevant and controversial issues for improving the management of patients with AHP.

The teaching of Radiology in other university studies.

After the implementation of the European Space for Higher Education, the contents of the Radiology and Physical Medicine Area that were taught in the Medicine Degree have also been incorporated into the new degrees of Dentistry, Nursing, Physiotherapy, Podiatry, and, to a lesser extent, Pharmacy, Occupational Therapy, Logopedia, and Biomedical Engineering As a whole, the basic concepts of radiology and radiological protection are taught in Murcia in 5 different degrees with a total of 52.5 ECTS credits, participating in the training of 1219 students each academic year. This incorporation in the new degrees has tripled the number of subjects in which undergraduate teaching is taught, and doubled both the number of ECTS credits and the number of undergraduate students to whom it directs its training work. Thus, given the possible creation of new university degrees in the near future (Diagnostic Imaging and Radiotherapy Technicians), it would be necessary to involve a greater number of accredited professionals, from different specialties, and to optimize teaching resources (bibliography, material teacher, clinical cases, etc.,) for its usefulness in the different subjects that share similar contents.

Laboratory study of rotationally inelastic collisions of CO2 at low temperatures.

The rotational relaxation of CO2 by inelastic collisions has been studied in three supersonic jets. The jets were probed by means of Raman spectroscopy with high spectral and spatial resolutions, measuring the rotational populations and the total number density. The time evolution of the rotational populations was analyzed by means of a kinetic master equation, with the help of the energy-corrected sudden power law to relate the numerous state-to-state rate (STS rates) coefficients. In the thermal range investigated, 60-260 K, the STS rates decrease with increasing temperature and with increasing change in the rotational quantum number. Other quantities of interest for fluid dynamics, such as the rotational collision number, the relaxation cross section, and the bulk viscosity, have been derived from the STS rates.

El tratamiento del dolor agudo pediátrico en España EN 2021: resultado de una encuesta nacional entre anestesiólogos pediátricos / The management of paediatric acute pain in Spain IN 2021: Results of a national survey among paediatric anaesthesiologists

Objetivo: Mejorar el conocimiento acerca de la práctica clínica habitual en el tratamiento del dolor agudo pediátrico en España.MétodosSe llevó a cabo una encuesta telemática a través de Internet en una muestra representativa de profesionales sanitarios involucrados en el tratamiento del dolor agudo pediátrico (concretamente anestesiólogos) en España. La encuesta incluyó 28 cuestiones acerca de su práctica clínica habitual en la valoración y el tratamiento del dolor agudo, así como aspectos formativos y organizativos en el dolor agudo pediátrico.ResultadosLa encuesta fue completada durante el mes de marzo de 2021 por 150 especialistas en anestesiología. Los encuestados presentaron una amplia experiencia en el tratamiento del dolor agudo pediátrico (media de años de experiencia: 14,3; DE: 7,8) y básicamente en dolor agudo postoperatorio (97% casos). Aunque el 80% de los mismos utilizaba de modo habitual escalas validadas de valoración de dolor agudo pediátrico, solo el 2,6% utilizaba las específicas adaptadas para pacientes con discapacidad cognitiva. La mayoría de los encuestados empleaba habitualmente fármacos analgésicos como el paracetamol (99%) o el metamizol (92%), pero solo el 84% los complementaba con alguna técnica de bloqueo loco-regional u otra medicación tipo antiinflamatorio no esteroideo (62%). Además, únicamente un 62,7% reconocía haber recibido formación específica en dolor agudo pediátrico, solo un 45% seguía protocolos institucionales hospitalarios y un escaso 28% lo hacía a través de unidades de dolor infantil.ConclusionesLa encuesta identificó importantes puntos de mejora en la formación y organización del tratamiento del dolor agudo de los pacientes españoles en edad pediátrica. (AU)

Objective: To improve knowledge about routine clinical practice in the management of paediatric acute pain in Spain.MethodsA telematic survey was conducted via the Internet on a representative sample of healthcare professionals involved in the management of paediatric acute pain (specifically anaesthesiologists) in Spain. The survey included 28 questions about their usual clinical practice in the assessment and treatment of acute pain, and also training and organisational aspects in paediatric acute pain.ResultsThe survey was completed during March 2021 by 150 specialists in anaesthesiology. The respondents widely experienced in the management of acute paediatric pain (mean years of experience: 14.3: SD: 7.8), essentially in acute postoperative pain (97% of cases). Although 80% routinely used validated paediatric acute pain assessment scales, only 2.6% used specific scales adapted for patients with cognitive impairment. Most of the respondents routinely used analgesic drugs such as paracetamol (99%) or metamizole (92%), but only 84% complemented these drugs with a loco-regional blocking technique or other non-steroidal anti-inflammatory drugs (62%). Furthermore, only 62.7% acknowledged having received specific training in paediatric acute pain, only 45% followed hospital institutional protocols, and a scant 28% did so through paediatric pain units.ConclusionsThe survey identified important points for improvement in the training and organisation of acute pain management in Spanish paediatric patients. (AU)

La enseñanza de la Radiología en otros estudios universitarios / The teaching of Radiology in other university studies

Tras la implantación del Espacio Europeo de Formación Superior, los contenidos del Área de Radiología y Medicina Física que se impartían tradicionalmente en la Licenciatura de Medicina se han incorporado también a los nuevos grados de Odontología, Enfermería, Fisioterapia, Podología y, en menor medida, Farmacia, Terapia Ocupacional, Logopedia, e Ingeniería Biomédica. En su conjunto, los conceptos básicos de radiología y protección radiológica se imparten en Murcia en 5 grados diferentes con un total de 52,5 créditos ECTS, participando en la formación de 1219 alumnos cada curso académico. Esta incorporación en los nuevos grados ha triplicado el número de asignaturas en las que se imparte docencia pregrado, y duplicado tanto el número de créditos ECTS como el número de alumnos de pregrado a los que dirige su labor de formación. Así, ante la posible creación de nuevos grados universitarios en un futuro próximo (Imagen para el Diagnóstico y Técnico en Radioterapia) sería necesaria la implicación de un mayor número de profesionales acreditados, de diferentes especialidades, y que optimicen los recursos docentes (bibliografía, material docente, casos clínicos, etc.) para su utilidad en las diferentes asignaturas que comparten contenidos similares.(AU)

After the implementation of the European Space for Higher Education, the contents of the Radiology and Physical Medicine Area that were taught in the Medicine Degree have also been incorporated into the new degrees of Dentistry, Nursing, Physiotherapy, Podiatry, and, to a lesser extent, Pharmacy, Occupational Therapy, Logopedia, and Biomedical Engineering As a whole, the basic concepts of radiology and radiological protection are taught in Murcia in 5 different degrees with a total of 52.5 ECTS credits, participating in the training of 1,219 students each academic year. This incorporation in the new degrees has tripled the number of subjects in which undergraduate teaching is taught, and doubled both the number of ECTS credits and the number of undergraduate students to whom it directs its training work. Thus, given the possible creation of new university degrees in the near future (Diagnostic Imaging and Radiotherapy Technicians), it would be necessary to involve a greater number of accredited professionals, from different specialties, and to optimize teaching resources (bibliography, material teacher, clinical cases, etc.) for its usefulness in the different subjects that share similar contents.(AU)

Role of VV ECMO tracheal surgery and carinal resection: Two case reports.

The aim of this study is to describe the anaesthesia management of two patients undergoing carinal resection under veno-venous extracorporeal membrane oxygenation (VV ECMO). In both cases, anaesthesia was induced and then maintained with inhalational agents during pneumonectomy and mediastinoscopy (respectively). Then the jugular and femoral veins were cannulated and VV ECMO was started after heparinization. One of the patients presented bleeding during surgery, which was treated with low-dose vasopressors (norepinephrine) and transfusion of platelets, fresh frozen plasma, and concentrated red blood cells. During VV ECMO, anaesthesia was maintained with target-controlled infusion of propofol. VV ECMO can be expected to improve surgical conditions in tracheal surgery; however, it is still a novel technique in this context. In selected patients, it would guarantee ventilatory support during carinal resection, but it is essential to carefully plan anaesthesia maintenance and prepare for VV ECMO-related complications. This technique should only be used in tertiary centres with experience in VV ECMO management.

Fine-tuning the use of moss transplants to map pollution by Potentially Toxic Elements (PTEs) in urban areas.

Mosspheres are a kind of moss transplants which offer a novel approach for detecting atmospheric pollution using devitalized mosses, as they reflect the atmospheric deposition of certain elements and polycyclic hydrocarbons. However, due to the unique features of the mosspheres such as the low elemental concentrations in the cultured material, the data treatment needs to be different from that of conventional biomonitoring studies. In this article, our objectives are to identify the best parameter for expressing the levels of chemical elements accumulated by mosspheres, and to apply a recently developed method to assess the probability of pollution of each sample and of the study area. To do this, we used data from a study in which 81 mosspheres were exposed in a medium-sized city in southwestern Europe. Comparing different pollution indices, we selected the enrichment rate (ER) as the most useful, as it is resilient to fluctuations in the initial concentrations and takes into account the time factor, allowing for greater comparability among studies. Then, we determined that the statistical distribution of the ERs of most elements fitted a normal distribution, showing that most samples did not differ significantly from the background concentrations for these elements. On the other hand, for Ni, Pb and Zn there was a subpopulation of samples above background values. In these cases, we determined the probability of pollution of each sample. Finally, we used indicator kriging to calculate the probability of pollution across the study area, identifying the polluted areas, which for some elements match the distribution of the main industries and highways, indicating that this is a suitable protocol to map elemental pollution in urban areas.

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

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

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

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

INTRODUCTION: Charcot-Marie-Tooth disease (CMT) is classified according to neurophysiological and histological findings, the inheritance pattern, and the underlying genetic defect. The objective of these guidelines is to offer recommendations for the diagnosis, prognosis, follow-up, and treatment of this disease in Spain. MATERIAL AND METHODS: These consensus guidelines were developed through collaboration by a multidisciplinary panel encompassing a broad group of experts on the subject, including neurologists, paediatric neurologists, geneticists, physiatrists, and orthopaedic surgeons. RECOMMENDATIONS: The diagnosis of CMT is clinical, with patients usually presenting a common or classical phenotype. Clinical assessment should be followed by an appropriate neurophysiological study; specific recommendations are established for the parameters that should be included. Genetic diagnosis should be approached sequentially; once PMP22 duplication has been ruled out, if appropriate, a next-generation sequencing study should be considered, taking into account the limitations of the available techniques. To date, no pharmacological disease-modifying treatment is available, but symptomatic management, guided by a multidiciplinary team, is important, as is proper rehabilitation and orthopaedic management. The latter should be initiated early to identify and improve the patient's functional deficits, and should include individualised exercise guidelines, orthotic adaptation, and assessment of conservative surgeries such as tendon transfer. The follow-up of patients with CMT is exclusively clinical, and ancillary testing is not necessary in routine clinical practice.