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1.
Hum Brain Mapp ; 45(8): e26706, 2024 Jun 01.
Article in English | MEDLINE | ID: mdl-38867646

ABSTRACT

We aimed to compare the ability of diffusion tensor imaging and multi-compartment spherical mean technique to detect focal tissue damage and in distinguishing between different connectivity patterns associated with varying clinical outcomes in multiple sclerosis (MS). Seventy-six people diagnosed with MS were scanned using a SIEMENS Prisma Fit 3T magnetic resonance imaging (MRI), employing both conventional (T1w and fluid-attenuated inversion recovery) and advanced diffusion MRI sequences from which fractional anisotropy (FA) and microscopic FA (µFA) maps were generated. Using automated fiber quantification (AFQ), we assessed diffusion profiles across multiple white matter (WM) pathways to measure the sensitivity of anisotropy diffusion metrics in detecting localized tissue damage. In parallel, we analyzed structural brain connectivity in a specific patient cohort to fully grasp its relationships with cognitive and physical clinical outcomes. This evaluation comprehensively considered different patient categories, including cognitively preserved (CP), mild cognitive deficits (MCD), and cognitively impaired (CI) for cognitive assessment, as well as groups distinguished by physical impact: those with mild disability (Expanded Disability Status Scale [EDSS] <=3) and those with moderate-severe disability (EDSS >3). In our initial objective, we employed Ridge regression to forecast the presence of focal MS lesions, comparing the performance of µFA and FA. µFA exhibited a stronger association with tissue damage and a higher predictive precision for focal MS lesions across the tracts, achieving an R-squared value of .57, significantly outperforming the R-squared value of .24 for FA (p-value <.001). In structural connectivity, µFA exhibited more pronounced differences than FA in response to alteration in both cognitive and physical clinical scores in terms of effect size and number of connections. Regarding cognitive groups, FA differences between CP and MCD groups were limited to 0.5% of connections, mainly around the thalamus, while µFA revealed changes in 2.5% of connections. In the CP and CI group comparison, which have noticeable cognitive differences, the disparity was 5.6% for FA values and 32.5% for µFA. Similarly, µFA outperformed FA in detecting WM changes between the MCD and CI groups, with 5% versus 0.3% of connections, respectively. When analyzing structural connectivity between physical disability groups, µFA still demonstrated superior performance over FA, disclosing a 2.1% difference in connectivity between regions closely associated with physical disability in MS. In contrast, FA spotted a few regions, comprising only 0.6% of total connections. In summary, µFA emerged as a more effective tool than FA in predicting MS lesions and identifying structural changes across patients with different degrees of cognitive and global disability, offering deeper insights into the complexities of MS-related impairments.


Subject(s)
Diffusion Tensor Imaging , Multiple Sclerosis , White Matter , Humans , Female , Male , Multiple Sclerosis/diagnostic imaging , Multiple Sclerosis/pathology , Anisotropy , Adult , Diffusion Tensor Imaging/methods , Middle Aged , White Matter/diagnostic imaging , White Matter/pathology , Brain/diagnostic imaging , Brain/pathology , Cognitive Dysfunction/diagnostic imaging , Cognitive Dysfunction/pathology , Cognitive Dysfunction/etiology
3.
Rev Clin Esp (Barc) ; 224(6): 379-386, 2024.
Article in English | MEDLINE | ID: mdl-38788798

ABSTRACT

AIM: To validate the EFFECT (Enhanced Feedback for Effective Cardiac Treatment) scales, which predict mortality at 1 month and 1 year after admission, in a defined cohort of patients admitted to the Araba University Hospital (HUA) with a diagnosis of acutely decompensated heart failure. METHOD: External validation study of a predictive model, in a retrospective cohort of patients admitted between October 1, 2020 and September 30, 2021. RESULTS: A total of 550 patients were included. The two scales demonstrated good overall discriminatory ability in our series, with an area under ROC (0.755 y 0.756) and values in Brier score (0.094 y 0.194) similar to the original series. Calibration was assessed using the Hosmer-Lemeshow test and calibration plots and was also adequate. All this despite the fact that significant differences were observed in many clinical characteristics between our series and the original one. CONCLUSIONS: The EFFECT scales showed good predictive ability and transportability. The one-month prediction scale was also useful for predicting mortality at one year. For both time periods, mortality was similar in the groups established in the original as low and very low risk.


Subject(s)
Heart Failure , Humans , Heart Failure/mortality , Male , Female , Retrospective Studies , Aged , Spain , Acute Disease , Aged, 80 and over , Middle Aged , Risk Assessment , Hospitalization/statistics & numerical data , Prognosis
4.
Vet Sci ; 11(5)2024 May 15.
Article in English | MEDLINE | ID: mdl-38787192

ABSTRACT

INTRODUCTION: Bovine tuberculosis is a zoonotic disease of significant impact, particularly in countries where a pastoral economy is predominant. Despite its importance, few studies have analysed the disease's behaviour in Colombia, and none have developed maps using geographic information systems (GIS) to characterise it; as such, we developed this study to describe the temporal-spatial distribution of bovine tuberculosis in Colombia over a period of 19 years. METHODS: A retrospective cross-sectional descriptive study, based on reports by the Colombian Agricultural Institute (ICA), surveillance of tuberculosis on cattle farms in Colombia from 2001 to 2019 was carried out. The data were converted into databases using Microsoft Access 365®, and multiple epidemiological maps were generated with the QGIS® version 3.36 software coupled to shape files of all the country's departments. RESULTS: During the study period, 5273 bovine tuberculosis cases were identified in multiple different departments of Colombia (with a mean of 278 cases/year). Regarding its temporal distribution, the number of cases varied from a maximum of 903 cases (17.12% of the total) in 2015 to a minimum of 0 between 2001 and 2004 and between 2017 and 2019 (between 2005 and 2016, the minimum was 46 cases, 0.87%). CONCLUSIONS: GIS are essential for understanding the temporospatial behaviour of zoonotic diseases in Colombia, as is the case for bovine tuberculosis, with its potential implications for the Human and One Health approaches.

5.
Neurologia (Engl Ed) ; 39(2): 135-146, 2024 Mar.
Article in English | MEDLINE | ID: mdl-38460992

ABSTRACT

INTRODUCTION: In recent years, there has been an increase of studies dedicated to cognitive rehabilitation in patients with multiple sclerosis (MS); however, few of these analyze the impact on such variables as cognitive reserve. The study aims to explore the effects of a cognitive rehabilitation program comprising a combination of cognitive and physical exercises, as well as group sessions to improve cognitive performance, emotional state, and cognitive reserve index. METHOD: Fifty patients with MS were subdivided into 2 groups: the control group, which performed aerobic exercise (n=25), and the experimental group (n=25), which participated in the integrated cognitive rehabilitation program (ICRP). All participants were evaluated 3 times (baseline, post-treatment, and long-term) with the Brief Repeatable Battery of Neuropsychological Tests, Cognitive Reserve Scale, Beck Depression Inventory, and a scale evaluating trait and state anxiety. RESULTS: Compared with the control group, patients in the experimental group showed improvements in cognitive function, with significant changes in measures of information processing speed, attention, memory, cognitive reserve index, and long-term mood. CONCLUSIONS: The ICRP was effective in improving cognitive and emotional function in MS, and increased the cognitive reserve index.


Subject(s)
Multiple Sclerosis , Humans , Pilot Projects , Multiple Sclerosis/psychology , Cognitive Training , Cognition , Affect
6.
Rehabilitación (Madr., Ed. impr.) ; 58(1): [100817], Ene-Mar, 2024. tab, ilus
Article in Spanish | IBECS | ID: ibc-229689

ABSTRACT

El dolor lumbar crónico causa discapacidad e impacto socioeconómico. El ejercicio de alta intensidad muestra resultados positivos en otras enfermedades, pero no existe evidencia sobre esta patología. Se pretende determinar su eficacia en la calidad de vida relacionada con la salud, la discapacidad, la intensidad del dolor y la adherencia al tratamiento en personas con dolor lumbar crónico. Se realiza una revisión bibliográfica en Pubmed, PEDro y Scopus, incluyendo ensayos clínicos aleatorizados, guías de práctica clínica y revisiones sistemáticas en español, inglés o portugués (2012-2022). Además, se hace una búsqueda en bola de nieve. Se incorporan ocho ensayos clínicos aleatorizados (n=379). Se analizan diferentes modalidades de ejercicio de alta intensidad, que parecen mejorar la calidad de vida relacionada con la salud y reducir la discapacidad y la intensidad del dolor. Estos datos se deben tomar con cautela dada la poca cantidad de estudios y el riesgo de sesgo que presentan.(AU)


Chronic low back pain causes disability and socioeconomic impact. High-intensity exercise shows positive results in other diseases, but there is no evidence on this pathology. The aim is to determine its efficacy on health-related quality of life, disability, pain intensity and adherence to treatment in people with chronic low back pain. A literature review is conducted in Pubmed, PEDro and Scopus, including randomized clinical trials, clinical practice guidelines and systematic reviews in Spanish, English or Portuguese (2012-2022). In addition, a snowball search is performed. Eight randomized clinical trials (n=379) are incorporated. Different high-intensity exercise modalities are analyzed, which seem to improve health-related quality of life and reduce disability and pain intensity. These data should be taken with caution given the small number of studies and the risk of bias presented.(AU)


Subject(s)
Humans , Male , Female , Low Back Pain/rehabilitation , Quality of Life , Physical Therapy Modalities , Exercise Therapy , Pain Measurement , Chronic Pain/rehabilitation , Rehabilitation , Pain Management , Treatment Adherence and Compliance
7.
Neurología (Barc., Ed. impr.) ; 39(2): 135-146, Mar. 2024. ilus, tab
Article in English | IBECS | ID: ibc-230868

ABSTRACT

Introduction In recent years, there has been an increase of studies dedicated to cognitive rehabilitation in patients with multiple sclerosis (MS); however, few of these analyze the impact on such variables as cognitive reserve. The study aims to explore the effects of a cognitive rehabilitation program comprising a combination of cognitive and physical exercises, as well as group sessions to improve cognitive performance, emotional state, and cognitive reserve index. Method Fifty patients with MS were subdivided into 2 groups: the control group, which performed aerobic exercise (n = 25), and the experimental group (n = 25), which participated in the integrated cognitive rehabilitation program (ICRP). All participants were evaluated 3 times (baseline, post-treatment, and long-term) with the Brief Repeatable Battery of Neuropsychological Tests, Cognitive Reserve Scale, Beck Depression Inventory, and a scale evaluating trait and state anxiety. Results Compared with the control group, patients in the experimental group showed improvements in cognitive function, with significant changes in measures of information processing speed, attention, memory, cognitive reserve index, and long-term mood. Conclusions The ICRP was effective in improving cognitive and emotional function in MS, and increased the cognitive reserve index. (AU)


Introducción En los últimos años se ha observado un interés creciente por la rehabilitación cognitiva en pacientes con esclerosis múltiple. Sin embargo, pocos estudios han analizado su impacto en variables como la reserva cognitiva. Analizamos el efecto de un programa de rehabilitación cognitiva que incluye ejercicios físicos y cognitivos, así como sesiones en grupo enfocadas a mejorar el rendimiento cognitivo, el estado emocional y el índice de reserva cognitiva. Métodos Nuestro estudio incluyó a 50 pacientes con esclerosis múltiple, divididos en 2 grupos: un grupo control (n = 25), en el que los pacientes realizaban ejercicio aeróbico, y un grupo experimental (n = 25), al que se administró un programa integral de rehabilitación cognitiva. Evaluamos a todos los pacientes en 3 momentos diferentes (al inicio, tras el tratamiento, y a largo plazo) con la Batería Neuropsicológica Breve, la Escala de Reserva Cognitiva, el Inventario de Depresión de Beck y una escala para medir la ansiedad rasgo y la ansiedad estado. Resultados Los pacientes del grupo experimental mostraron un mejor rendimiento cognitivo que los controles, con cambios significativos en medidas de velocidad de procesamiento de la información, atención, memoria, índice de reserva cognitiva y estado de ánimo a largo plazo. Conclusión Nuestros resultados demuestran la eficacia del programa de rehabilitación cognitiva para mejorar las funciones cognitiva y emocional de los pacientes con esclerosis múltiple y aumentar el índice de reserva cognitiva. (AU)


Subject(s)
Humans , Young Adult , Adult , Middle Aged , Multiple Sclerosis/rehabilitation , Cognition , Exercise , Cognitive Reserve , Pilot Projects
8.
ESC Heart Fail ; 11(3): 1767-1776, 2024 Jun.
Article in English | MEDLINE | ID: mdl-38380837

ABSTRACT

AIMS: Hypertonic saline solution (HSS) plus intravenous (IV) loop diuretic appears to enhance the diuretic response in patients hospitalized for heart failure (HF). The efficacy and safety of this therapy in the ambulatory setting have not been evaluated. We aimed to describe the design and baseline characteristics of the SALT-HF trial participants. METHODS AND RESULTS: 'Efficacy of Saline Hypertonic Therapy in Ambulatory Patients with HF' (SALT-HF) trial was a multicenter, double-blinded, and randomized study involving ambulatory patients who experienced worsening heart failure (WHF) without criteria for hospitalization. Enrolled patients had to present at least two signs of volume overload, use ≥ 80 mg of oral furosemide daily, and have elevated natriuretic peptides. Patients were randomized 1:1 to treatment with a 1-h infusion of IV furosemide plus HSS (2.6-3.4% NaCl depending on plasmatic sodium levels) versus a 1-h infusion of IV furosemide at the same dose (125-250 mg, depending on basal loop diuretic dose). Clinical, laboratory, and imaging parameters were collected at baseline and after 7 days, and a telephone visit was planned after 30 days. The primary endpoint was 3-h diuresis after treatment started. Secondary endpoints included (a) 7-day changes in congestion data, (b) 7-day changes in kidney function and electrolytes, (c) 30-day clinical events (need of IV diuretic, HF hospitalization, cardiovascular mortality, all-cause mortality or HF-hospitalization). RESULTS: A total of 167 participants [median age, 81 years; interquartile range (IQR), 73-87, 30.5% females] were randomized across 13 sites between December 2020 and March 2023. Half of the participants (n = 82) had an ejection fraction >50%. Most patients showed a high burden of comorbidities, with a median Charlson index of 3 (IQR: 2-4). Common co-morbidities included diabetes mellitus (41%, n = 69), atrial fibrillation (80%, n = 134), and chronic kidney disease (64%, n = 107). Patients exhibited a poor functional NYHA class (69% presenting NYHA III) and several signs of congestion. The mean composite congestion score was 4.3 (standard deviation: 1.7). Ninety per cent of the patients (n = 151) presented oedema and jugular engorgement, and 71% (n = 118) showed lung B lines assessed by ultrasound. Median inferior vena cava diameter was 23 mm, (IQR: 21-25), and plasmatic levels of N-terminal-pro-B-type natriuretic peptide (NTproBNP) and antigen carbohydrate 125 (CA125) were increased (median NT-proBNP 4969 pg/mL, IQR: 2508-9328; median CA125 46 U/L, IQR: 20-114). CONCLUSIONS: SALT-HF trial randomized 167 ambulatory patients with WHF and will determine whether an infusion of hypertonic saline therapy plus furosemide increases diuresis and improves decongestion compared to equivalent furosemide administration alone.


Subject(s)
Heart Failure , Humans , Saline Solution, Hypertonic/administration & dosage , Heart Failure/drug therapy , Heart Failure/physiopathology , Female , Male , Aged , Double-Blind Method , Treatment Outcome , Furosemide/administration & dosage , Infusions, Intravenous , Follow-Up Studies , Middle Aged , Ambulatory Care/methods , Stroke Volume/physiology
11.
Rehabilitacion (Madr) ; 58(1): 100817, 2024.
Article in Spanish | MEDLINE | ID: mdl-37879144

ABSTRACT

Chronic low back pain causes disability and socioeconomic impact. High-intensity exercise shows positive results in other diseases, but there is no evidence on this pathology. The aim is to determine its efficacy on health-related quality of life, disability, pain intensity and adherence to treatment in people with chronic low back pain. A literature review is conducted in Pubmed, PEDro and Scopus, including randomized clinical trials, clinical practice guidelines and systematic reviews in Spanish, English or Portuguese (2012-2022). In addition, a snowball search is performed. Eight randomized clinical trials (n=379) are incorporated. Different high-intensity exercise modalities are analyzed, which seem to improve health-related quality of life and reduce disability and pain intensity. These data should be taken with caution given the small number of studies and the risk of bias presented.


Subject(s)
Chronic Pain , Low Back Pain , Humans , Low Back Pain/therapy , Quality of Life , Chronic Pain/therapy , Exercise , Exercise Therapy/methods
14.
Rev. neurol. (Ed. impr.) ; 77(3): 79-81, Juli-Dic. 2023. ilus
Article in English, Spanish | IBECS | ID: ibc-223695

ABSTRACT

Introducción: La miopatía miotubular es una enfermedad muscular congénita causada por una mutación en el gen de la miotubularina (MTM1). La miopatía miotubular ligada al cromosoma X (XLMTM) afecta a los hombres con síntomas de aparición temprana como debilidad muscular, hipotonía y dificultad respiratoria. Hasta donde sabemos, la afectación cardíaca en estos pacientes no se ha descrito previamente, a diferencia de otros tipos de miopatías congénitas, como la miopatía nemalínica o la miopatía con cores. Casos clínicos: Presentamos dos casos clínicos de XLMTM que comenzaron con bradicardia sinusal grave o bloqueo auriculoventricular desde los primeros días de vida, con Holter patológico en ambos casos. Se descartó una afectación cardíaca primaria por estudios electrofisiológicos y se recuperó la frecuencia cardíaca normal con soporte respiratorio adecuado. Conclusión: Estos casos con bradicardia grave en una patología bien conocida, como la XLMTM, suponen un matiz en el diagnóstico diferencial habitual de las miopatías congénitas.(AU)


Introduction: Myotubular myopathy is a congenital muscle disease caused by a mutation in the myotubularin (MTM1) gene. The X-linked myotubular myopathy (XLMTM) affects males with early-onset symptoms such as muscle weakness, hypotonia, and respiratory distress. To our knowledge, cardiac involvement has not been previously described in this condition, in contrast to other types of congenital myopathies such as nemaline myopathy or core myopathy. Case reports: We report two clinical cases of XLMTM that started with severe sinus bradycardia or auriculoventricular block from the first days of life, with pathologic 24-hours Holter monitoring in both cases. A primary cardiac affection was excluded by electrophysiological studies and normal heart rate was recovered with proper respiratory support. Discussion: These cases with sever bradyarrhythmia in a well know pathology such the XLMTM represents a nuance on the usual differential diagnostics of congenital myopathies.(AU)


Subject(s)
Humans , Male , Infant, Newborn , Myopathies, Structural, Congenital/complications , Arrhythmias, Cardiac , X Chromosome , Bradycardia , Neuromuscular Diseases , Inpatients , Physical Examination , Neurology , Nervous System Diseases , Pediatrics
15.
Rehabilitación (Madr., Ed. impr.) ; 57(3): [100764], Jul-Sep. 2023. ilus, tab
Article in Spanish | IBECS | ID: ibc-222917

ABSTRACT

Introducción y objetivos: Los programas de rehabilitación cardíaca (PRC) fase III han sido poco investigados tanto por los métodos de entrenamiento como por las modalidades de administración. Estudiamos los efectos en capacidad funcional, composición corporal y adherencia a la actividad física de un PRC interdisciplinar basado en ejercicio terapéutico aeróbico combinado con fuerza muscular tras síndrome coronario agudo. Diseño del estudio: Ensayo clínico aleatorizado. Métodos: Ochenta pacientes con cardiopatía isquémica estable y función sistólica preservada fueron incluidos posteriormente a un PRC fase II. Se distribuyeron en grupo control (GC), con ejercicio autónomo y grupo experimental (GE), con ejercicio aeróbico combinado con fuerza muscular comunitaria, además de estrategia educativa de mensajería telefónica instantánea. Ambos grupos realizaron terapia grupal hospitalaria. Se compararon los resultados de capacidad funcional, composición corporal y nivel de actividad física tras 12 meses. Resultados: La capacidad funcional presentó niveles más altos en el GE en la prueba de marcha de 6min, 26,03m (DE: 27,4; p<0,001), y en la ergometría incremental convencional, 0,6METs (DE: 2,2; p=0,021). El nivel de actividad física domiciliaria medido con el cuestionario IPAQ en el GE incrementó 90,38min/semana (DE: 79,7; (p=0,047), y disminuyó el tiempo sedentario entresemana −50,3min/día (DE: 94,5; p=0,001). Ambos grupos aumentaron el tejido adiposo, sobre todo el GC 1,4% (DE: 3,1; p=0,039). Conclusiones: Los pacientes con síndrome coronario agudo que realizaron un PRC fase III comunitario durante 12 meses, mediante ejercicio terapéutico aeróbico combinado con fuerza muscular y estrategias educativas de mensajería telefónica instantánea, presentaron niveles más altos en capacidad funcional y actividad física reportada.(AU)


Introduction and objectives: The effects of a phase III cardiac rehabilitation program (CRP) have been insufficiently studied in terms of training methods and administration. We studied the impact on functional capacity, body composition and physical activity engagement of interdisciplinary program based on aerobic and community strength therapeutic exercise after an acute coronary syndrome. Trial design: Randomised clinical trial. Methods: Eighty consecutive patients with stable ischemic heart disease and preserved systolic function before phase II CRP were included. They were distributed into a control group (CG), with autonomous exercise, and an experimental group (EG), that follows supervised community program based on aerobic exercise and overload dynamic muscle strength, and an educational strategy through short messaging. Both groups underwent monthly inpatient group therapy. Results were compared after 12 months. Results: Functional capacity presented higher levels in the EG and measured by the 6-min walk test (26.0±27.4m; P<.001), and maximal exercise test (0.6±2.2METs; P=.021). Home physical activity measured in minutes by IPAQ questionnaire increased more in the EG (90±78min/week) (P=.047), and the sitting time during the week decreased (−50.25±94.48min/day) (P=.001). There were no differences in body mass index, although we found a higher percentage of adipose tissue in CG after 12 months (P=.039). Conclusions: A multidisciplinary community phase III CRP based on aerobic and dynamic muscle strength therapeutic exercise combined with a short message service educational strategy was feasible. After 12 months, patients in the EG presented higher levels on functional capacity, reported higher physical activity engagement compared to the CG.(AU)


Subject(s)
Humans , Male , Female , Middle Aged , Aged , Cardiac Rehabilitation , Myocardial Ischemia/rehabilitation , Body Composition , Physical Functional Performance , Acute Coronary Syndrome/rehabilitation , Exercise Therapy , Rehabilitation , Rehabilitation Services , Physical and Rehabilitation Medicine , Motor Activity , Surveys and Questionnaires
16.
Rev Neurol ; 77(3): 79-81, 2023 08 01.
Article in English, Spanish | MEDLINE | ID: mdl-37466134

ABSTRACT

INTRODUCTION: Myotubular myopathy is a congenital muscle disease caused by a mutation in the myotubularin (MTM1) gene. The X-linked myotubular myopathy (XLMTM) affects males with early-onset symptoms such as muscle weakness, hypotonia, and respiratory distress. To our knowledge, cardiac involvement has not been previously described in this condition, in contrast to other types of congenital myopathies such as nemaline myopathy or core myopathy. CASE REPORTS: We report two clinical cases of XLMTM that started with severe sinus bradycardia or auriculoventricular block from the first days of life, with pathologic 24-hours Holter monitoring in both cases. A primary cardiac affection was excluded by electrophysiological studies and normal heart rate was recovered with proper respiratory support. DISCUSSION: These cases with sever bradyarrhythmia in a well know pathology such the XLMTM represents a nuance on the usual differential diagnostics of congenital myopathies.


TITLE: Arritmias en pacientes con miopatía miotubular ligada al cromosoma X.Introducción. La miopatía miotubular es una enfermedad muscular congénita causada por una mutación en el gen de la miotubularina (MTM1). La miopatía miotubular ligada al cromosoma X (XLMTM) afecta a los hombres con síntomas de aparición temprana como debilidad muscular, hipotonía y dificultad respiratoria. Hasta donde sabemos, la afectación cardíaca en estos pacientes no se ha descrito previamente, a diferencia de otros tipos de miopatías congénitas, como la miopatía nemalínica o la miopatía con cores. Casos clínicos. Presentamos dos casos clínicos de XLMTM que comenzaron con bradicardia sinusal grave o bloqueo auriculoventricular desde los primeros días de vida, con Holter patológico en ambos casos. Se descartó una afectación cardíaca primaria por estudios electrofisiológicos y se recuperó la frecuencia cardíaca normal con soporte respiratorio adecuado. Conclusión. Estos casos con bradicardia grave en una patología bien conocida, como la XLMTM, suponen un matiz en el diagnóstico diferencial habitual de las miopatías congénitas.


Subject(s)
Myopathies, Nemaline , Myopathies, Structural, Congenital , Male , Humans , Mutation , Muscle Hypotonia , Myopathies, Structural, Congenital/complications , Myopathies, Structural, Congenital/genetics , Myopathies, Structural, Congenital/pathology , Arrhythmias, Cardiac , Muscle, Skeletal/pathology
17.
bioRxiv ; 2023 Jul 03.
Article in English | MEDLINE | ID: mdl-37461525

ABSTRACT

Loss of proteostasis is a hallmark of aging and Alzheimer disease (AD). Here, we identify ß-hydroxybutyrate (ßHB), a ketone body, as a regulator of protein solubility in the aging brain. ßHB is a small molecule metabolite which primarily provides an oxidative substrate for ATP during hypoglycemic conditions, and also regulates other cellular processes through covalent and noncovalent protein interactions. We demonstrate ßHB-induced protein insolubility across in vitro, ex vivo, and in vivo mouse systems. This activity is shared by select structurally similar metabolites, is not dependent on covalent protein modification, pH, or solute load, and is observable in mouse brain in vivo after delivery of a ketone ester. Furthermore, this phenotype is selective for pathological proteins such as amyloid-ß, and exogenous ßHB ameliorates pathology in nematode models of amyloid-ß aggregation toxicity. We have generated a comprehensive atlas of the ßHB-induced protein insolublome ex vivo and in vivo using mass spectrometry proteomics, and have identified common protein domains within ßHB target sequences. Finally, we show enrichment of neurodegeneration-related proteins among ßHB targets and the clearance of these targets from mouse brain, likely via ßHB-induced autophagy. Overall, these data indicate a new metabolically regulated mechanism of proteostasis relevant to aging and AD.

18.
Sanid. mil ; 79(2): 82-90, jun. 2023. tab, graf, ilus
Article in Spanish | IBECS | ID: ibc-230410

ABSTRACT

Introducción: El buque escuela Juan Sebastián de Elcano es un bergantín-goleta de la Armada. Debido a sus características y tipo de navegaciones, la asistencia sanitaria (prestada por un Role 1 embarcado y, puntualmente, por un equipo quirúrgico compuesto por un oficial médico cirujano general y un oficial médico anestesiólogo), está considerada un recurso esencial. Material y métodos: Estudio descriptivo retrospectivo sobre las atenciones médicas realizadas a bordo agrupadas por especialidad, pruebas médicas complementarias, consumo de hemoderivados, motivo de asistencia médica en puerto, número de evacuaciones hasta territorio nacional y tipo de consultas realizadas por telemedicina al Role 4 durante doce cruceros de navegación entre 2010 y 2020. Resultados: Las asistencias sanitarias más prevalentes han sido: traumatológicas (n=1.982, 22.04 %), seguidas de otorrinolaringológicas (n=1.234, 13,72 %) y finalmente la tercera especialidad con consultas más prevalentes fue medicina interna (n=1.125, 12,50 %). Se llevaron a cabo 112 interconsultas en puerto (primera causa odontología y segunda traumatología) y 24 evacuaciones a territorio nacional. Las pruebas complementarias más frecuentemente solicitadas fueron: control de estupefacientes y radiografías. Se realizaron 37 consultas de telemedicina y no se transfundió ninguna unidad de hemocomponentes durante el periodo analizado. Conclusiones: El estudio de la asistencia sanitaria en el buque escuela de la Armada ha revelado que la traumatología es la causa más prevalente de las consultas a bordo, seguida de las interconsultas en puerto, las consultas por telemedicina y evacuaciones en territorio nacional. Gracias a la labor de la Sanidad Militar a bordo es posible la función marinera, docente y embajadora en los mares. (AU)


Overview: Juan Sebastián de Elcano training ship is a brigantine-school of the Spanish Navy. Due to its characteristics and navigation type, health care (provided by a Role 1 on-board and occasionally enhanced by a surgical team that includes a general surgeon medical officer and an anesthesiologist medical officer), is considered an essential resource. Material and methods: Retrospective descriptive study of medical care provided on board, grouped by medical specialty, complementary tests, blood products consumption, reason of medical assistance in port, number of evacuations to national territory and type of consultations performed by telemedicine to Role 4 during twelve sailing cruises between 2010 and 2020. Results: The most prevalent healthcare services were traumatology (n=1.982, 22.04%), followed by otorhinolaryngology (n=1.234, 13.72%) and the third was internal medicine (n=1.125, 12.50%). 112 internal medicine consultations were conducted in port (dental first and traumatology second) and 24 evacuations to national territory. The most often requested complementary tests were drug control and X-rays. There were 37 telemedicine consultations and no unit of blood components were transfused during the analyzed period. Conclusions: The study of health care on the navy training ship has shown that traumatology is the most frequent cause of medical consultations on board, followed by internal medicine consultations in port, telemedicine consultations and evacuations to national territory. Thanks to the work of the Military Health on board, it is possible to sail, teach and be ambassador on the seas. (AU)


Subject(s)
Naval Medicine , Medical Care , Surgical Equipment , Retrospective Studies
19.
Sanid. mil ; 79(2): 82-90, jun. 2023. tab, graf, ilus
Article in Spanish | IBECS | ID: ibc-EMG-593

ABSTRACT

Introducción: El buque escuela Juan Sebastián de Elcano es un bergantín-goleta de la Armada. Debido a sus características y tipo de navegaciones, la asistencia sanitaria (prestada por un Role 1 embarcado y, puntualmente, por un equipo quirúrgico compuesto por un oficial médico cirujano general y un oficial médico anestesiólogo), está considerada un recurso esencial. Material y métodos: Estudio descriptivo retrospectivo sobre las atenciones médicas realizadas a bordo agrupadas por especialidad, pruebas médicas complementarias, consumo de hemoderivados, motivo de asistencia médica en puerto, número de evacuaciones hasta territorio nacional y tipo de consultas realizadas por telemedicina al Role 4 durante doce cruceros de navegación entre 2010 y 2020. Resultados: Las asistencias sanitarias más prevalentes han sido: traumatológicas (n=1.982, 22.04 %), seguidas de otorrinolaringológicas (n=1.234, 13,72 %) y finalmente la tercera especialidad con consultas más prevalentes fue medicina interna (n=1.125, 12,50 %). Se llevaron a cabo 112 interconsultas en puerto (primera causa odontología y segunda traumatología) y 24 evacuaciones a territorio nacional. Las pruebas complementarias más frecuentemente solicitadas fueron: control de estupefacientes y radiografías. Se realizaron 37 consultas de telemedicina y no se transfundió ninguna unidad de hemocomponentes durante el periodo analizado. Conclusiones: El estudio de la asistencia sanitaria en el buque escuela de la Armada ha revelado que la traumatología es la causa más prevalente de las consultas a bordo, seguida de las interconsultas en puerto, las consultas por telemedicina y evacuaciones en territorio nacional. Gracias a la labor de la Sanidad Militar a bordo es posible la función marinera, docente y embajadora en los mares. (AU)


Overview: Juan Sebastián de Elcano training ship is a brigantine-school of the Spanish Navy. Due to its characteristics and navigation type, health care (provided by a Role 1 on-board and occasionally enhanced by a surgical team that includes a general surgeon medical officer and an anesthesiologist medical officer), is considered an essential resource. Material and methods: Retrospective descriptive study of medical care provided on board, grouped by medical specialty, complementary tests, blood products consumption, reason of medical assistance in port, number of evacuations to national territory and type of consultations performed by telemedicine to Role 4 during twelve sailing cruises between 2010 and 2020. Results: The most prevalent healthcare services were traumatology (n=1.982, 22.04%), followed by otorhinolaryngology (n=1.234, 13.72%) and the third was internal medicine (n=1.125, 12.50%). 112 internal medicine consultations were conducted in port (dental first and traumatology second) and 24 evacuations to national territory. The most often requested complementary tests were drug control and X-rays. There were 37 telemedicine consultations and no unit of blood components were transfused during the analyzed period. Conclusions: The study of health care on the navy training ship has shown that traumatology is the most frequent cause of medical consultations on board, followed by internal medicine consultations in port, telemedicine consultations and evacuations to national territory. Thanks to the work of the Military Health on board, it is possible to sail, teach and be ambassador on the seas. (AU)


Subject(s)
Naval Medicine , Medical Care , Surgical Equipment , Retrospective Studies
20.
Arch Soc Esp Oftalmol ; 98(5): 254-258, 2023 May.
Article in Spanish | MEDLINE | ID: mdl-37122608

ABSTRACT

Objective: To analyze the impact of the COVID-19 pandemic on the diagnosis and management of uveal melanoma (a tumor included in the Orphanet catalog of rare diseases) in a Spanish national reference unit for intraocular tumors during the first year of the pandemic. Material and methods: An observational retrospective study of patients with uveal melanoma in the National Reference Unit for Adult Intraocular Tumors of the Hospital Clínico Universitario de Valladolid (Spain) was performed, analyzing the pre- and post-COVID-19 periods: from March 15, 2019 to March 15, 2020 and from March 16, 2020 to March 16, 2021. Demographic data, diagnostic delay, tumor size, extraocular extension, treatment and evolution were collected. A multivariable logistic regression model was used to identify factors that were associated with the variable: enucleation. Results: Eighty-two patients with uveal melanoma were included, of which 42(51.21%) belonged to the pre-COVID-19 period and 40(40.78%) to the post-COVID-19 period. An increase in tumor size at diagnosis and in the number of enucleations was observed during the post-COVID-19 period (p < 0.05). Multivariable logistic regression demonstrated that both medium-large tumor size and patients diagnosed in the post-COVID-19 period were independently related to an increased risk of enucleation (OR 250, 95%CI, 27.69-2256.37; p < 0.01 and OR 10; 95% CI,1.10-90.25; p = 0.04, respectively). Conclusions: The increase in tumor size observed in uveal melanomas diagnosed during the first year of the COVID-19 pandemic may have favored the increase in the number of enucleations performed during that period.

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