Epidemiology of ataxia and hereditary spastic paraplegia in Spain: A cross-sectional study.

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1933 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 938 patients were men (48.5%) and 995 were women (51.5%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.

Método simple para minimizar la discrepancia en la longitud de las extremidades y restaurar el offset en la artroplastia total de cadera / A Simple method to minimize limb length discrepancy and restore offset in total hip arthroplasty

Introducción: Existen más de 20 técnicas diferentes para corregir la discrepancia de miembros inferiores. El método que aquí se evalúa se basa en una clavija fija posicionada en el ala ilíaca asociada a un "calibre" móvil, con otra clavija con la que se marca la referencia en el trocánter mayor. Objetivo: Evaluar la confiabilidad de este dispositivo de medición usado durante la artroplastia total de cadera para restaurar la longitud del miembro inferior y el offset femoral. Materiales y Métodos: Se formaron dos grupos: grupo A con pacientes en quienes no se había usado el dispositivo y grupo B con pacientes en quienes sí se había usado el dispositivo. Se realizaron las mediciones en la radiografía panorámica de pelvis obtenida con el paciente de pie, antes de la cirugía y 3 meses después. Resultados: Se obtuvo una muestra de 80 pacientes (40 por grupo). Se logró corregir la discrepancia de la longitud de los miembros, pero no se hallaron diferencias estadísticamente significativas en la corrección promedio, entre ambos grupos (p = 0,07). Sin embargo, al analizar la varianza en la corrección de la discrepancia de la longitud de cada grupo se obtuvo una diferencia estadísticamente significativa (p <0,001). Conclusiones: Este dispositivo que permite una medición cuantificable más objetiva no asegura una corrección de la discrepancia de la longitud exacta a 0 mm, pero sí permite trabajar dentro de un rango más confiable y seguro. Nivel de Evidencia: III

Introduction: There are more than 20 different techniques to correct lower limb length discrepancy. The method evaluated in this study is based on a fixed pin in the iliac wing connected to a mobile gauge and another pin in the greater trochanter with which the reference is marked. The objective is to evaluate the reliability of this measurement device used during THA to restore lower limb length and femoral offset. Materials and Methods: Two groups were formed: Group A (patients who did not use the device) and Group B (patients who did use the device). Measurements were taken in the pre-surgery panoramic pelvic radiograph with the patient standing and three months later. Results: A sample of 80 patients was obtained, with 40 in each group. The difference in limb length could be corrected in each group, however the average correction achieved by both groups did not result in a statistically significant difference (p=0.07). However, when the variance in the correction of the difference in length of each group was examined, a statistically significant difference (p<0.001) was obtained. Conclusions: We can conclude that while this device, which serves as a more objective quantifiable measurement technique, does not guarantee a correction of the exact length discrepancy to 0 mm, it does allow us to work within a more dependable and safe range. Level of Evidence: III

Enclavado endomedular en fracturas de tibia. ¿Existe una relación entre el punto de entrada para la inserción del clavo y su alineación final? / Intramedullary nailing of tibial fractures. Is there a relationship between the entry point and its final alignment?

Introducción: Las fracturas de tibia representan aproximadamente el 2% de las fracturas del adulto. El enclavado endomedular es hoy el procedimiento de elección para tratar fracturas diafisarias de tibia; sin embargo, esta técnica no está exenta de complicaciones, la desalineación en el plano coronal es una de las más frecuentes y temidas por los cirujanos. El objetivo de este estudio fue investigar la relación entre el punto de entrada del clavo y la desalineación en el plano coronal después de la cirugía. Materiales y Métodos: Se realizó un estudio retrospectivo, descriptivo, observacional, entre enero de 2015 y enero de 2019, de pacientes con fracturas diafisarias de tibia, tratadas con clavo endomedular. Se obtuvieron radiografías en el posquirúrgico inmediato y luego cada dos meses, se tuvo en cuenta la radiografía del octavo mes, en la que se observaban signos francos de consolidación ósea, para valorar la alineación tibial. Resultados:Cuando el punto de entrada del clavo fue central, hubo apenas un 0,021 de posibilidades (o 2,1%) de alguna desalineación significativa en el posquirúrgico inmediato y luego de 8 meses. En cambio, cuando fue medial, las posibilidades de una tendencia al valgo fueron >0,85 (u 85%) ya al tomar la primera imagen, i.e., poscirugía; y cuando fue lateral, esta posibilidad se modifica y profundiza según el tiempo transcurrido hasta la imagen lograda en el paciente. Conclusión: Se observó una relación marcada y continua entre el punto de entrada del clavo endomedular y la alineación de la tibia después de la consolidación ósea. Nivel de Evidencia: IV

Introduction: Tibial fractures represent approximately 2% of adult fractures. Today, intramedullary nailing is the procedure of choice to treat diaphyseal fractures of the tibia; however, this technique is not exempt from complications, misalignment in the coronal plane is one of the most frequent and feared by surgeons. The aim of this study was to investigate the relationship between nail entry point and misalignment in the coronal plane after surgery. Materials and Methods: We carried out a retrospective, descriptive, observational study between January 2015 and January 2019 of patients with diaphyseal fractures of the tibia, treated with intramedullary nailing. Radiographs were obtained in the immediate postoperative period and then every two months. The eighth-month radiograph, in which clear signs of bone consolidation could be observed, was taken into account to assess tibial alignment. Results: When the nail entry point was central, there was only a 0.021 chance (or 2.1%) of any significant misalignment in the immediate postoperative period and after 8 months. In contrast, when it was medial, the chances of a valgus tendency were >0.85 (or 85%) already at the first image, i.e., post-surgery; and when it was lateral, this possibility was modified and deepenedaccording to the time elapsed until the image achieved in the patient. Conclusion: A marked and continuous relationship wasobserved between the entry point of the intramedullary nail and the alignment of the tibia after bone consolidation..Level of Evidence: IV

[Distal peroneal artery pseudoaneurysm]. / Seudoaneurisma de arteria peronea distal.

INTRODUCTION: Aneurysms and pseudoaneurysms of the arteries of the foot and ankle are rare clinical entities. In most cases occur within months or years of the initial trauma, complications in the aforementioned situations are very uncommon, however, they should be ruled out at medical check-ups. We will present a clinical case in which pseudoaneurysm of the Distal Peroneal Artery occurred as a result of a fracture- dislocation of the ankle. CLINICAL CASE: Patient of 60 years of age with trauma in right ankle, his radiographic study of the right ankle evidencing fracture- dislocation of the same. Surgical treatment is decided four days after the injury. In the postoperative course with edema, circulatory changes of abnormal form that merited imaging complement and arteriography was performed which indicates the presence of pseudoaneurysm of approximately 28 × 30 mm in distal peroneal artery meriting specific treatment with adequate control of symptoms. CONCLUSION: We believe that it is of the utmost importance the correct assessment and physical examination of patients undergoing ankle surgery in successive post-surgical controls to detect these types of complications early and treat them in time.

INTRODUCCIÓN: Los aneurismas y seudoaneurismas de las arterias del pie y tobillo son entidades clínicas poco frecuentes. En la mayoría de los casos ocurren a los meses o años del trauma inicial, las complicaciones en las situaciones antes mencionadas son muy infrecuentes; sin embargo, deben descartarse en los controles médicos. Presentaremos un caso clínico en el cual se produjo seudoaneurisma de la arteria peronea distal como consecuencia de una luxofractura de tobillo. CASO CLÍNICO: Paciente de 60 años de edad con trauma en tobillo derecho, su estudio radiográfico de tobillo derecho evidenció luxofractura del mismo. Se decide tratamiento quirúrgico cuatro días después de la lesión. En el postoperatorio padeció edema, ambos circulatorios de forma anormal que ameritó complemento imagenológico y se realizó arteriografía, la cual indica presencia de seudoaneurisma de 28 × 30 mm aproximadamente en arteria peronea distal ameritando tratamiento específico con adecuado control de síntomas. CONCLUSIÓN: Creemos que es de suma importancia la correcta valoración y examen físico de los pacientes sometidos a cirugía de tobillo en los controles postquirúrgicos sucesivos para detectar de manera precoz este tipo de complicaciones y tratarlos a tiempo.

Estimation of the post-mortem interval of human skeletal remains using Raman spectroscopy and chemometrics.

An important demand exists in the field of forensic analysis to objectively determine the post-mortem interval (PMI) when human skeletal remains are discovered. It is widely known that bones undergo different chemical and physical processes after death, mainly due to their interaction with the environment in which they are found, although it is not known exactly what these processes consist of. Multiple techniques have been used so far to follow up these and other post-mortem changes and thus establish the time elapsed since the individual's death, but they present important drawbacks in terms of reliability and accuracy. The aim of this research was to propose an analytical methodology capable of determining the PMI by using non-destructive Raman spectroscopy measurements of human skeletal remains. The recorded Raman spectra provided valuable and potentially useful information from which a multivariate study was performed by means of orthogonal partial least squares regression (OPLSR) in order to correlate the PMI with the detected spectral modifications. A collection of 53 real human skeletal remains with known PMI (15 years ≤ PMI ≤ 87 years) was analysed and used for building and validating the OPLS model. The PMI of 10 out of 14 validation samples could be determined with an accuracy error of less than 30%, demonstrating the adequate predictive performance of the OPLS model even in spite of the large inter-individual variability it handled. This opens up the possibility of applying the OPLS model in combination with non-destructive techniques to the determination of the PMI of human skeletal remains that have been buried in conditions similar or equal to those of cemetery niches and in a geographic location with a Mediterranean climate, which is an important achievement for forensic medicine and anthropology.

Midterm results and complications rates in vancouver type B2 and B3 periprosthetic femoral fractures treated with modular fluted tapered stems.

Evaluate the mid-term success rate of these stems in periprosthetic femur fractures and to analyze the complications observed with the use of these stems. METHODS: Thirty five patients that underwent hip revision surgery secondary to Vancouver type B2 and B3 periprosthetic femur fracture were evaluated. In all cases, modular fluted tapered stems were used. RESULTS: Average follow-up was 42 months. Average Postoperative Harris Hip Score (HHS) was 78.11. Fracture healing was obtained in a 100% of the patients. Average implant survival was 50 months. CONCLUSION: Modular fluted tapered stems demonstrated a high rate implant stability, proximal femoral bone reconstitution, and fracture healing.

Seudoaneurisma de arteria peronea distal / Distal peroneal artery pseudoaneurysm

Resumen: Introducción: Los aneurismas y seudoaneurismas de las arterias del pie y tobillo son entidades clínicas poco frecuentes. En la mayoría de los casos ocurren a los meses o años del trauma inicial, las complicaciones en las situaciones antes mencionadas son muy infrecuentes; sin embargo, deben descartarse en los controles médicos. Presentaremos un caso clínico en el cual se produjo seudoaneurisma de la arteria peronea distal como consecuencia de una luxofractura de tobillo. Caso clínico: Paciente de 60 años de edad con trauma en tobillo derecho, su estudio radiográfico de tobillo derecho evidenció luxofractura del mismo. Se decide tratamiento quirúrgico cuatro días después de la lesión. En el postoperatorio padeció edema, ambos circulatorios de forma anormal que ameritó complemento imagenológico y se realizó arteriografía, la cual indica presencia de seudoaneurisma de 28 × 30 mm aproximadamente en arteria peronea distal ameritando tratamiento específico con adecuado control de síntomas. Conclusión: Creemos que es de suma importancia la correcta valoración y examen físico de los pacientes sometidos a cirugía de tobillo en los controles postquirúrgicos sucesivos para detectar de manera precoz este tipo de complicaciones y tratarlos a tiempo.

Abstract: Introduction: Aneurysms and pseudoaneurysms of the arteries of the foot and ankle are rare clinical entities. In most cases occur within months or years of the initial trauma, complications in the aforementioned situations are very uncommon, however, they should be ruled out at medical check-ups. We will present a clinical case in which pseudoaneurysm of the Distal Peroneal Artery occurred as a result of a fracture- dislocation of the ankle. Clinical case: Patient of 60 years of age with trauma in right ankle, his radiographic study of the right ankle evidencing fracture- dislocation of the same. Surgical treatment is decided four days after the injury. In the postoperative course with edema, circulatory changes of abnormal form that merited imaging complement and arteriography was performed which indicates the presence of pseudoaneurysm of approximately 28 × 30 mm in distal peroneal artery meriting specific treatment with adequate control of symptoms. Conclusion: We believe that it is of the utmost importance the correct assessment and physical examination of patients undergoing ankle surgery in successive post-surgical controls to detect these types of complications early and treat them in time.

Identification and diagnosis of Secondary Progressive Multiple Sclerosis during the clinical encounter: Results from a physician survey.

BACKGROUND: It is difficult to characterize the transition from relapsing-remitting multiple sclerosis (RRMS) to secondary progressive MS (SPMS), due to symptomatic variability across patients. Diagnosis of SPMS is prolonged and often established retrospectively, as it is based on patient clinical history and symptoms. This cross-sectional study aimed to identify MS neurologist reported clinical indicators deemed important in diagnosing SPMS in clinical practice. METHODS: A web-based quantitative survey was conducted among MS-treating neurologists across the United States in January 2019. The questionnaire comprised of 17 questions evaluating primary clinical indicators used by neurologists in assessing patient progression to SPMS. Treatment approach and factors influencing treatment decision-making following SPMS diagnosis were also analyzed in the survey. RESULTS: Overall, 300 neurologists completed the survey; most of the respondents were general MS-treating neurologists (63%) and from private care setting (58%). The overall respondents as well as MS-focused neurologists ranked patient history (45% and 42%, respectively) and patients' neurological exam (39% and 44%, respectively) as -primary clinical indicators of SPMS diagnosis. 57% of neurologists always or mostly switched disease modifying therapies after progression to SPMS, and mostly considered 3-6 months' assessment interval to diagnose SPMS. CONCLUSION: The survey indicated that neurologists are able to recognize signs of SPMS within six months of symptomatic assessment. The diagnosis is primarily based on patient history among MS-treating neurologists. Therefore, continued education to neurologists may facilitate early diagnosis and timely introduction of effective treatment to manage the progression of SPMS.

Epidemiology of ataxia and hereditary spastic paraplegia in Spain: a cross-sectional study. / Mapa epidemiológico transversal de las ataxias y paraparesias espásticas hereditarias en España.

INTRODUCTION: Ataxia and hereditary spastic paraplegia are rare neurodegenerative syndromes. We aimed to determine the prevalence of these disorders in Spain in 2019. PATIENTS AND METHODS: We conducted a cross-sectional, multicentre, retrospective, descriptive study of patients with ataxia and hereditary spastic paraplegia in Spain between March 2018 and December 2019. RESULTS: We gathered data from a total of 1.809 patients from 11 autonomous communities, provided by 47 neurologists or geneticists. Mean (SD) age in our sample was 53.64 (20.51) years; 920 patients were men (50.8%) and 889 were women (49.2%). The genetic defect was unidentified in 920 patients (47.6%). A total of 1371 patients (70.9%) had ataxia and 562 (29.1%) had hereditary spastic paraplegia. Prevalence rates for ataxia and hereditary spastic paraplegia were estimated at 5.48 and 2.24 cases per 100 000 population, respectively. The most frequent type of dominant ataxia in our sample was SCA3, and the most frequent recessive ataxia was Friedreich ataxia. The most frequent type of dominant hereditary spastic paraplegia in our sample was SPG4, and the most frequent recessive type was SPG7. CONCLUSIONS: In our sample, the estimated prevalence of ataxia and hereditary spastic paraplegia was 7.73 cases per 100 000 population. This rate is similar to those reported for other countries. Genetic diagnosis was not available in 47.6% of cases. Despite these limitations, our study provides useful data for estimating the necessary healthcare resources for these patients, raising awareness of these diseases, determining the most frequent causal mutations for local screening programmes, and promoting the development of clinical trials.

Vástagos estriados cónicos modulares en revisión de artroplastia total de cadera. Estudio multicéntrico. Resultados y complicaciones a mediano plazo / Modular fluted tapered stems in revision total hip arthroplasty. Multicenter study. Medium-term results and complication rate

Introducción: Debido al crecimiento exponencial del número de artroplastias de cadera, se espera una mayor cantidad de re-visiones en las próximas décadas. Los vástagos cónicos estriados modulares se han vuelto populares en la última década por sus resultados favorables. El objetivo de este estudio es evaluar los resultados, las complicaciones y la tasa de supervivencia de estos vástagos en las revisiones de cadera, con un seguimiento a mediano plazo. materiales y métodos: Estudio multicéntrico, retrospectivo. Se incluyeron 182 pacientes a quienes se les realizó una cirugía de revisión de cadera entre 2007 y 2017. Se colo-caron 185 vástagos cónicos estriados de fijación distal. El déficit de stock óseo femoral se clasificó según Paprosky y Burnett; y las facturas periprotésicas, según la clasificación de Vancouver. Se evaluó a los pacientes clínicamente con el Harris Hip Score (HHS) y con radiografías a los 3 meses y anualmente para evaluar la estabilidad del vástago, la subsidencia y el aflojamiento, así como la consolidación de la osteotomía. Resultados: Seguimiento medio 55.18 meses. El HHS posoperatorio tuvo una media de 80,28 (DE = 12,8, IC95% 78,5-82,97). No hubo complicaciones posoperatorias en el 75,4% de los pacientes. Las complicaciones más frecuentes fueron inestabilidad (7,6%) y subsidencia del implante (11,5%). Al final del seguimiento, el 95,05% de los pacientes tenía un implante estable. Conclusiones: Los vástagos cónicos estriados modulares de fijación distal proporcionan una solución confiable, reproducible y duradera para el manejo de revisiones de componentes femorales a medio plazo. Nivel de Evidencia: IV

Background: The number of arthroplasties performed every year is increasing; therefore, a greater number of revisions is expected in the coming decades. Modular fluted tapered stems have become the gold standard for their results in different series of patients. The objective of this article is to evaluate the results, complications and the survival rate of these stems in hip revisions with a medium-term follow-up. Materials and Methods: Retrospective, multicenter analysis. One hundred eighty-two patients who had undergone hip revision surgery between 2007 and 2017 were included. One hundred eighty-five modular fluted tapered stems were placed. Femoral bone stock defects were classified according to Paprosky and Burnett; and periprosthetic femur fractures according to Vancouver classification. Patients were evaluated clinically with Harris Hip Score (HHS) and radiographically 3 months after surgery and every year to assess stem stability, subsidence and loosening, as well as osteotomy healing. Results: Average follow-up was 55.18 months. Postoperative HHS had an average of 80.28 (SD = 12.8, 95% CI = [78.5, 82.97]). There were no postoperative complications in 75.4% of the patients. The most frequent complications were instability in 7.6% and implant subsidence in 11.5%. At the end of the follow-up, 95.05% of the patients had a stable implant. Conclusion: Modular fluted tapered stems provide a reliable, reproducible solution for the management of femoral component revisions at medium-term. Level of Evidence: IV

Influencia de la fusión espinal en la orientación del implante acetabular / Influence of spinal fusion on acetabular implant orientation

Introducción: Las enfermedades degenerativas de la cadera y la columna vertebral son causas comunes de discapacidad y dolor y los síntomas suelen superponerse. Cuando algún parámetro se altera, otro debe modificarse para evitar el choque femoroacetabular y una posible luxación. Se piensa que la fijación lumbar afectaría la adaptación de la unidad espino-pélvica en las diferentes posturas. El objetivo de este estudio fue analizar el comportamiento espino-pélvico en pacientes con artroplastia total de cadera y artrodesis lumbar. Materiales y Métodos: Se realizó un estudio no aleatorizado, retrospectivo, de casos y controles en pacientes con artroplastia total de cadera evaluados con radiografía lumbopélvica de frente y de perfil en posición erecta y en sedestación, divididos en dos grupos: con artrodesis lumbar o sin ella. Se midieron parámetros espino-pélvicos y femoroacetabulares. Resultados: La muestra tenía 50 pacientes: 25 en cada grupo. Quince tenían artroplastia total de cadera bilateral y el nivel de fijación lumbar más frecuente era L5-S1. No hubo diferencia estadísticamente significativa en la edad y el sexo entre ambos grupos. Los pacientes con artrodesis lumbar necesitaron más flexión de cadera para sentarse, sin un aumento significativo asociado en la tasa de luxación. Conclusiones: La composición ideal de los componentes aún es difícil de alcanzar. La reconsideración de las "zonas seguras" de los componentes ha comenzado a alejarse de los valores del plano coronal de Lewinnek. Se ha propuesto un nuevo enfoque en las zonas seguras del plano sagital más apropiadas y precisas en pacientes seleccionados con enfermedad espino-pélvica grave. Nivel de Evidencia: III

Introduction: Degenerative diseases of the hip and spine are common causes of disability and pain, and the symptoms usually overlap. When a parameter is altered, another one should be modified to avoid femoroacetabular impingement and a potential dislocation. It is believed that lumbar fixation would affect the adaptation of the spinopelvic unit in different postures. This article aims to analyze the spinopelvic behavior in patients with Total Hip Arthroplasty (THA) and lumbar arthrodesis. Materials and Methods: A non-randomized retrospective study of cases and controls was carried out in patients with THA, who were assessed using anterior and lateral X-ray views in functional sitting and standing postures, divided into two groups depending on the presence or absence of lumbar arthrodesis. Spinopelvic parameters as well as femoroacetabular parameters were measured. Results: A sample of 50 patients was selected, 25 in each group. In total, 15 patients had bilateral THA, and the most common level of lumbar fixation was L5-S1. There was no statistically significant difference in gender and age between both groups. Lumbar arthrodesis patients required more hip flexion to sit, without being associated with a significant increase in the rate of dislocation. Conclusion: The ideal composition of the components is still difficult to achieve. The review of the "safe zones" of the components has started to depart from the values of the body plane proposed by Lewinnek. A new approach has been proposed to the safe zones of the sagittal plane, which are more appropriate and accurate in selected patients with severe spinopelvic pathology. Level of Evidence: IIII

OPLS multivariate regression of FTIR-ATR spectra of acrylic paints for age estimation in contemporary artworks.

In recent years the interest and demand for artworks has been increasing as they are an interesting commercial investment due to their growing value in the market. This explains the increasing number of counterfeits dealing with artworks that has led to the development of new methodologies for their characterization. The material characterization of these types of works can provide relevant information for both authentication and conservation/restoration. Thus, in this study multivariate chemometric methods were applied to FTIR-ATR spectroscopic data for artwork dating purposes. To that end, ageing prediction models were developed for Liquitex® and Hyplar® brands. Paint samples containing the green synthetic organic pigment (PG7), were exposed to artificial ageing and analysed with FTIR-ATR and Py-GC/MS for characterization and monitorization of the main components (binding medium, pigment and additives). Although the OPLS ageing models were mainly characterized by the modifications suffered by both the binder and the surfactants, a universal model could not be developed due to differences in the modification trends of the different brands. The applicability of the OPLS modelling for artwork dating purposes was tested in artworks provided by internationally recognized contemporary Basque artists. For Liquitex® a significant correlation (p < 0.05) between natural and accelerated ageing could be established, in which approximately 50 h of accelerated ageing under the applied conditions were equivalent to one natural year. This correlation might have possible applications in the dating of artworks for up to at least 22 years. Thus, the study demonstrates that FTIR-ATR combined with chemometrics is a potential method for artwork dating and a valuable source of information about the chemical processes involved in paint ageing, which can be of great help in the conservation and restoration steps.