Efectos de la estimulación transcraneal por corriente directa y de la estimulación magnética transcraneal en pacientes con fibromialgia. Revisión sistemática / Effects of transcranial direct current stimulation and transcranial magnetic stimulation in patients with fibromyalgia. A systematic review

ntroducción: La fibromialgia (FM) es una patología crónica caracterizada por la presenciade dolor musculoesquelético generalizado que se asocia a trastornos psicológicos que afectana la calidad de vida. En los últimos a˜nos, la estimulación transcraneal con corriente directa(tDCS) y la estimulación magnética transcraneal (TMS) se han estudiado para el abordaje deldolor crónico. El objetivo de esta revisión es determinar los efectos de la tDCS y la TMS en lossíntomas característicos de los pacientes con FM.Desarrollo: Se realizó una revisión sistemática acorde a los criterios PRISMA. Se realizaronbúsquedas en las bases de datos Medline, Scopus, PEDro y Cochrane Library. Se seleccionaronensayos clínicos aleatorizados que analizaran los efectos de estas intervenciones en el dolor, elumbral de dolor a la presión, la fatiga, la ansiedad y depresión, el catastrofismo y la calidad devida en pacientes con FM. Se incluyeron 14 estudios.Conclusiones: La aplicación de tDCS en el córtex motor es la única intervención que ha mos-trado disminuir el dolor a corto y medio plazo en pacientes con FM. La aplicación de ambasintervenciones ha mostrado mejoras en el umbral de dolor a la presión, el catastrofismo y lacalidad de vida cuando se aplica en el córtex motor, y de la fatiga cuando se aplica en la cortezadorsolateral prefrontal. Los efectos de estas intervenciones en la ansiedad y depresión no sonconcluyentes.(AU)

Introduction: Fibromyalgia syndrome (FM) is a chronic pathology characterized by widespreadpain commonly associated with psychological distress affecting quality of life. In recent years,transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS) havebeen investigated to treat chronic pain. The aim of the current review is to determine theeffects of tDCS and TMS on the main symptoms of patients with FM.Development: A systematic review based on PRISMA guidelines was carried out. The searchstrategy was performed in Medline, Scopus, PEDro and Cochrane Library. Randomized controlledtrials based on the effects of tDCS and TMS on pain, pressure pain threshold, fatigue, anxietyand depression, catastrophizing and quality of life in patients with FM were analysed. Fourteenstudies were included.Conclusions: The application of tDCS to the motor cortex is the only intervention shown todecrease pain in the short and medium-term in patients with FM. The application of bothinterventions showed improvements in pressure pain threshold, catastrophizing and quality oflife when applied to the motor cortex, and in fatigue when applied to the dorsolateral prefrontalcortex. The effects of these interventions on anxiety and depression are unclear.(AU)

[Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients]. / Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes.

OBJECTIVES: To describe a series of patients with episodic ataxia type 2 (EA2), attending to epidemiological, clinical, radiological, and therapeutic variables. MATERIAL AND METHODS: Retrospective revision of patients with molecular diagnosis of EA2 (CACNA1A mutations), between 1988 and 2022. Information achieved from the database of our Movement Disorders clinic. A descriptive statistical analysis was made. RESULTS: Ten patients from five families were analyzed (six women). Median age at diagnosis was 37.5 years-old, with a median diagnostic delay of 20 years. 70% reported familial history of CACNA1A associated symptoms, although 50% presented migraine, epilepsy, dystonia, or neuropsychiatric alterations. Two heterozygous consanguineous patients had homozygotic descendance with infant mortality due to early-onset epileptic encephalopathy type 42. Five pathogenic/probably pathogenic CACNA1A variants were detected. 80% of patients had episodic triggers, being stress the most common. Episodes had a weekly frequency before treatment initiation. Six patients developed chronic ataxia (one patient demand gait support). 50% of patients with neuroimaging presented cerebellar atrophy. Acetazolamide were initiated in 80%, and 75% of them showed improvement of episodic symptoms. Nephrolithiasis was the most frequent side effect. CONCLUSIONS: EA2 has a great intrafamilial and interfamilial phenotypic variability. The most frequent phenotype were weekly episodes of unsteadiness, several hours of length, stress as the main trigger, chronic ataxia and gaze-evoked nystagmus. Acetazolamide is effective, although complications are usual. Neurologist must be alert as diagnostic delay is constant.

TITLE: Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes.Objetivo. Describir una serie de pacientes con ataxia episódica tipo 2 (AE2) según variables epidemiológicas, clínicas, radiológicas y terapéuticas. Material y métodos. Revisión retrospectiva de pacientes con diagnóstico molecular de AE2 (mutación en CACNA1A) entre 1988 y 2022, información recogida de la base de datos de la Unidad de Trastornos del Movimiento de nuestro centro. Se realizó un análisis estadístico descriptivo. Resultados. Se analizó a 10 pacientes procedentes de cinco familias. La mediana de edad en el momento del diagnóstico fue 37,5 años, con un retraso diagnóstico de 20 años. El 50% asociaba epilepsia, migraña, distonía o alteraciones neuropsiquiátricas. El 70% tenía una historia familiar de síntomas asociados a CACNA1A. Dos pacientes heterocigotos consanguíneos tuvieron descendencia homocigota con mortalidad infantil por encefalopatía epiléptica de inicio precoz de tipo 42. Se detectaron cinco variantes diferentes de CACNA1A. El 80% mostró factores desencadenantes, y el estrés fue el más común. La frecuencia episódica más habitual fue semanal. Seis pacientes desarrollaron ataxia interepisódica, aunque sólo uno precisó apoyo en la marcha. El 50% de los pacientes con neuroimagen presentó atrofia cerebelosa. El 80% inició acetazolamida durante el seguimiento, con respuesta a dosis altas en el 75%. La nefrolitiasis fue el efecto adverso más frecuente. La 4-aminopiridina fue una alternativa eficaz. Conclusiones. La AE2 presenta una alta variabilidad fenotípica inter- e intrafamiliar. El fenotipo más frecuente fueron episodios de inestabilidad, de horas de duración, semanales, con estrés como desencadenante, ataxia persistente y nistagmo evocado por la mirada. La acetazolamida, aunque es eficaz, no está exenta de complicaciones. El retraso diagnóstico es muy frecuente.

Ataxia episódica tipo 2: estudio clínico, genético y radiológico de 10 pacientes / Episodic ataxia type 2: a clinical, genetic and radiological study of 10 patients

Objetivo: Describir una serie de pacientes con ataxia episódica tipo 2 (AE2) según variables epidemiológicas, clínicas, radiológicas y terapéuticas. Material y métodos. Revisión retrospectiva de pacientes con diagnóstico molecular de AE2 (mutación en CACNA1A) entre 1988 y 2022, información recogida de la base de datos de la Unidad de Trastornos del Movimiento de nuestro centro. Se realizó un análisis estadístico descriptivo. Resultados: Se analizó a 10 pacientes procedentes de cinco familias. La mediana de edad en el momento del diagnóstico fue 37,5 años, con un retraso diagnóstico de 20 años. El 50% asociaba epilepsia, migraña, distonía o alteraciones neuropsiquiátricas. El 70% tenía una historia familiar de síntomas asociados a CACNA1A. Dos pacientes heterocigotos consanguíneos tuvieron descendencia homocigota con mortalidad infantil por encefalopatía epiléptica de inicio precoz de tipo 42. Se detectaron cinco variantes diferentes de CACNA1A. El 80% mostró factores desencadenantes, y el estrés fue el más común. La frecuencia episódica más habitual fue semanal. Seis pacientes desarrollaron ataxia interepisódica, aunque sólo uno precisó apoyo en la marcha. El 50% de los pacientes con neuroimagen presentó atrofia cerebelosa. El 80% inició acetazolamida durante el seguimiento, con respuesta a dosis altas en el 75%. La nefrolitiasis fue el efecto adverso más frecuente. La 4-aminopiridina fue una alternativa eficaz. Conclusiones: La AE2 presenta una alta variabilidad fenotípica inter- e intrafamiliar. El fenotipo más frecuente fueron episodios de inestabilidad, de horas de duración, semanales, con estrés como desencadenante, ataxia persistente y nistagmo evocado por la mirada. La acetazolamida, aunque es eficaz, no está exenta de complicaciones. El retraso diagnóstico es muy frecuente.(AU)

Objectives: To describe a series of patients with episodic ataxia type 2 (EA2), attending to epidemiological, clinical, radiological, and therapeutic variables. Material and methods: Retrospective revision of patients with molecular diagnosis of EA2 (CACNA1A mutations), between 1988 and 2022. Information achieved from the database of our Movement Disorders clinic. A descriptive statistical analysis was made. Results: Ten patients from five families were analyzed (six women). Median age at diagnosis was 37.5 years-old, with a median diagnostic delay of 20 years. 70% reported familial history of CACNA1A associated symptoms, although 50% presented migraine, epilepsy, dystonia, or neuropsychiatric alterations. Two heterozygous consanguineous patients had homozygotic descendance with infant mortality due to early-onset epileptic encephalopathy type 42. Five pathogenic/probably pathogenic CACNA1A variants were detected. 80% of patients had episodic triggers, being stress the most common. Episodes had a weekly frequency before treatment initiation. Six patients developed chronic ataxia (one patient demand gait support). 50% of patients with neuroimaging presented cerebellar atrophy. Acetazolamide were initiated in 80%, and 75% of them showed improvement of episodic symptoms. Nephrolithiasis was the most frequent side effect. Conclusions: EA2 has a great intrafamilial and interfamilial phenotypic variability. The most frequent phenotype were weekly episodes of unsteadiness, several hours of length, stress as the main trigger, chronic ataxia and gaze-evoked nystagmus. Acetazolamide is effective, although complications are usual. Neurologist must be alert as diagnostic delay is constant.(AU)

Effects of transcranial direct current stimulation and transcranial magnetic stimulation in patients with fibromyalgia. A systematic review.

BACKGROUND: Fibromyalgia syndrome (FM) is a chronic pathology characterised by widespread pain commonly associated with psychological distress affecting quality of life. In recent years, transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS) have been investigated to treat chronic pain. The aim of the current review is to determine the effects of tDCS and TMS on the main symptoms of patients with FM. DEVELOPMENT: A systematic review based on PRISMA guidelines was carried out. The search strategy was performed in MEDLINE, SCOPUS, PEDro and Cochrane Library. Randomised controlled trials based on the effects of tDCS and TMS on pain, pressure pain threshold (PPT), fatigue, anxiety and depression, catastrophising and quality of life in patients with FM were analysed. Fourteen studies were included. CONCLUSIONS: The application of tDCS to the motor cortex is the only intervention shown to decrease pain in the short and medium-term in patients with FM. The application of both interventions showed improvements in PPT, catastrophising and quality of life when applied to the motor cortex, and in fatigue when applied to the dorsolateral prefrontal cortex. The effects of these interventions on anxiety and depression are unclear.

Fiabilidad intraexaminador e interexaminador de Clinometer para medir el rango de movimiento en pacientes con artrosis de cadera / Test–retest and inter-rater reliability of Clinometer for measuring range of motion in patients with hip osteoarthritis

Objetivo Evaluar la fiabilidad intraexaminador e interexaminador de la aplicación Clinometer para medir el rango de movimiento (RDM) de la cadera en pacientes con artrosis de cadera y su correlación con el goniómetro universal. Métodos Se diseñó un estudio de medidas repetidas en el que se incluyeron 35 pacientes con artrosis de cadera. Se registró el RDM de rotación interna, externa, flexión y extensión de cadera mediante la aplicación Clinometer por 2 examinadores independientes. Se calculó la fiabilidad intraexaminador e interexaminador utilizando el coeficiente de correlación intraclase, y se calculó el error estándar de medición y el cambio mínimo detectable. Se utilizó el coeficiente de correlación de Pearson para correlacionar la aplicación Clinometer con el goniómetro universal. Resultados La aplicación Clinometer mostró una fiabilidad excelente tanto intraexaminador (coeficiente de correlación intraclase: 0,82-0,96) como interexaminador (coeficiente de correlación intraclase: 0,81-0,95) para todos los RDM de la cadera valorados. La correlación entre este instrumento y el goniómetro universal mostró ser fuerte para todos los RDM de la cadera (r>0,70). Conclusión La aplicación Clinometer ha mostrado unos niveles de fiabilidad excelentes para la medición del RDM de rotación interna, externa, flexión y extensión de la cadera en pacientes con artrosis y presenta una fuerte correlación con el goniómetro universal (AU)

Objective To evaluate the test–retest and inter-rater reliability of the application Clinometer for measuring the hip range of motion (ROM) in patients with hip osteoarthritis and its correlation with the universal goniometer. Methods A blinded repeated measured was carried out with 35 patients with hip osteoarthritis. Hip internal rotation, external rotation, flexion and extension ROM were measured using Clinometer app by 2 independents raters. The intraclass correlation coefficient was used to calculate the test–retest reliability and inter-rater reliability. The standard error measurement and minimal detectable change were also calculated. The Pearson's correlation coefficient was used to correlate the app with the universal goniometer. Results Clinometer application achieved excellent test–retest reliability (intraclass correlation coefficient: 0.82-0.96) and inter-rater reliability (intraclass correlation coefficient: 0.81-0.95) in all the ROMs assessed. The correlation analysis with the universal goniometer showed strong correlation values (r>0.70) in all the ROMs assessed. Conclusion Clinometer application presented excellent test–retest reliability and inter-rater reliability for the measurement of hip ROM in patients with hip osteoarthritis. The smartphone application showed a strong correlation compared to universal goniometer (AU)

¿Es el estiramiento pasivo del cuádriceps igual de efectivo que el autoestiramiento en jugadores de fútbol? Ensayo clínico aleatorizado / Is quadriceps passive stretching as effective as self-stretching in soccer athletes? Randomized clinical trial

Objetivo Comparar los efectos de un estiramiento pasivo del músculo cuádriceps frente a un autoestiramiento en la flexibilidad de los músculos del muslo y el rango de movimiento (ROM) de la cadera en jugadores de fútbol. Métodos Se diseñó un ensayo clínico aleatorizado en el que se incluyeron 34 jugadores de fútbol amateur con déficit de flexibilidad en el músculo cuádriceps. Los jugadores fueron aleatorizados en dos grupos (grupo estiramiento o grupo autoestiramiento). Cada participante recibió una única sesión de estiramiento pasivo o autoestiramiento del cuádriceps en su pierna dominante. Se valoró la flexibilidad del cuádriceps mediante el test de Ely, la flexibilidad de los isquiotibiales mediante el Passive Knee Extension test, y ROM de flexión y extensión de la cadera. Resultados Ambos grupos mostraron un aumento estadísticamente significativo de la flexibilidad del cuádriceps, de la flexibilidad de los isquiotibiales y del ROM de extensión de la cadera sin diferencias significativas entre ellos (p>0,05). El grupo estiramiento mostró unos tamaños del efecto grandes en la flexibilidad y el ROM de extensión (d>0,8), siendo superiores a los registrados en el grupo autoestiramiento. Conclusiones La flexibilidad de los músculos cuádriceps e isquiotibiales, así como el ROM de extensión de cadera aumentaron tras el estiramiento y el autoestiramiento del músculo cuádriceps. Los tamaños del efecto mostrados por el grupo estiramiento fueron superiores a los del grupo autoestiramiento (AU)

Objective To compare the effects of quadriceps passive stretching or quadriceps self-stretching in muscle flexibility and hip range of motion (ROM) in football athletes. Methods A randomized clinical trial was carried out. Thirty-four football athletes with lack of flexibility in the quadriceps muscle were included and randomized in two groups (Stretching group or self-stretching group) and received a single session of quadriceps passive stretching or quadriceps self-stretching in the dominant lower limb. The outcome variables were: quadriceps flexibility measured with the Ely's test, hamstring flexibility measured with the Passive Knee Extension test and hip flexion and extension ROM. Results Both groups achieved a statistically significant improvement of quadriceps flexibility, hamstrings flexibility and hip extension ROM without statistically significant differences between them (p>0.05). The stretching group reported large effect sizes in muscle flexibility and hip extension ROM (d>0.8), and the effect sizes of the stretching group were higher than the self-stretching group. Conclusions Flexibility of the quadriceps and hamstring muscles as well as hip extension ROM increased after stretching and self-stretching of the quadriceps muscle. The effect sizes shown by the stretching group were higher than those of the self-stretching group (AU)

Explorando la nutrición en la farmacia comunitaria con nuevas herramientas. Ciclo de podcasts / Exploring nutrition in community pharmacy with new tools. Podcast series

JUSTIFICACIÓN: la farmacia comunitaria es lugar idóneo para tratar temas de salud relacionados con la nutrición. Muchas patologías y sus tratamientos precisan de consejo o intervención en el plano nutricional. La situación de pandemia actual ha obligado a buscar nuevas estrategias de formación y los podcasts han irrumpido como alternativa muy interesante.OBJETIVOS: formar a los farmacéuticos comunitarios en el área de Nutrición en farmacia comunitaria, mediante un ciclo de podcast. Potenciar la utilización de tecnologías de la información y comunicación (TIC) en el colectivo farmacéutico. Analizar y valorar el impacto de la herramienta de formación diseñada.MATERIAL Y MÉTODOS: los contenidos fueron desarrollados por farmacéuticos comunitarios, pertenecientes al grupo de Nutrición y Digestivo de SEFAC, con experiencia en los temas tratados y sometidos a una revisión por pares para garantizar la calidad. Posteriormente, los encargados de la creación de contenidos procedieron a su grabación con la participación de un periodista y finalmente fueron editados para su difusión a través de Ivoox, Spotify y Apple Podcasts.RESULTADOS: se grabaron un total de 11 podcasts con una duración media de 18 minutos sobre los títulos que se detallan a continuación relacionados con la nutrición y su aplicación en la farmacia comunitaria: La Vitamina D Proteína y salud muscular Desnutrición Ejercicio físico y salud. Prevenir la deshidratación. Interacción fármacos- nutrientes. Prevenir y tratar las úlceras de presión El rincón del mayor en la farmacia comunitaria. Desnutrición en procesos oncológicos Diabetes y nutrición ¿Es posible un servicio de nutrición en la farmacia comunitaria? Se procedió a su emisión en las plataformas mencionadas de febrero a diciembre de 2021 a razón de uno por mes. La media de escuchas de la colección fue a fecha 21 de febrero de 922. (AU)

Biallelic variants in genes previously associated with dominant inheritance: CACNA1A, RET and SLC20A2.

A subset of families with co-dominant or recessive inheritance has been described in several genes previously associated with dominant inheritance. Those recessive families displayed similar, more severe, or even completely different phenotypes to their dominant counterparts. We report the first patients harboring homozygous disease-related variants in three genes that were previously associated with dominant inheritance: a loss-of-function variant in the CACNA1A gene and two missense variants in the RET and SLC20A2 genes, respectively. All patients presented with a more severe clinical phenotype than the corresponding typical dominant form. We suggest that co-dominant or recessive inheritance for these three genes could explain the phenotypic differences from those documented in their cognate dominant phenotypes. Our results reinforce that geneticists should be aware of the possible different forms of inheritance in genes when WES variant interpretation is performed. We also evidence the need to refine phenotypes and inheritance patterns associated with genes in order to avoid failures during WES analysis and thus, raising the WES diagnostic capacity in the benefit of patients.

Effects of transcranial direct current stimulation and transcranial magnetic stimulation in patients with fibromyalgia. A systematic review. / Efectos de la estimulación transcraneal por corriente directa y de la estimulación magnética transcraneal en pacientes con fibromialgia. Revisión sistemática.

INTRODUCTION: Fibromyalgia syndrome (FM) is a chronic pathology characterized by widespread pain commonly associated with psychological distress affecting quality of life. In recent years, transcranial direct current stimulation (tDCS) and transcranial magnetic stimulation (TMS) have been investigated to treat chronic pain. The aim of the current review is to determine the effects of tDCS and TMS on the main symptoms of patients with FM. DEVELOPMENT: A systematic review based on PRISMA guidelines was carried out. The search strategy was performed in Medline, Scopus, PEDro and Cochrane Library. Randomized controlled trials based on the effects of tDCS and TMS on pain, pressure pain threshold, fatigue, anxiety and depression, catastrophizing and quality of life in patients with FM were analysed. Fourteen studies were included. CONCLUSIONS: The application of tDCS to the motor cortex is the only intervention shown to decrease pain in the short and medium-term in patients with FM. The application of both interventions showed improvements in pressure pain threshold, catastrophizing and quality of life when applied to the motor cortex, and in fatigue when applied to the dorsolateral prefrontal cortex. The effects of these interventions on anxiety and depression are unclear.

Recomendación Clínica: "Recomendaciones para el manejo de pacientes con COVID-19 con indicación terapéutica de ventilación mecánica que eventualmente son conectados a máquinas de anestesia" / Recommendations for patient management with COVID-19 with therapeutic indication mechanical ventilation that eventually are connected to anesthesia machines

La pandemia de COVID-19 producida por SARS-CoV-2 actualmente en curso anticipa una gran demanda por ventiladores mecánicos (VM), ya que un porcentaje relevante de los contagiados cae rápidamente en insuficiencia respiratoria y requiere de cuidados intensivos. Anticipándose a ese exceso de demanda y considerando que es muy probable que el número actual de ventiladores mecánicos en las unidades de cuidados intensivos (UCI) sean insuficientes, se ha solicitado a la SACH un informe técnico en relación al uso de las máquinas de anestesia como VM.

Recomendaciones para el manejo de pacientes con COVID19 en el perioperatorio / Recommendations for the management of patients with COVID19 in the perioperative period

En diciembre de 2019, una serie de casos de neumonía de causa desconocida surgieron en Wuhan, Hubei, China, con presentaciones clínicas muy parecidas a la neumonía viral. El análisis de secuenciación profunda de muestras del tracto respiratorio inferior indicó un nuevo coronavirus, que se denominó nuevo coronavirus 2019 (2019-nCoV o SARS-CoV2) [15]. La propagación del virus ha sido extremadamente rápida, tanto así que el 11 de marzo de 2020 y luego de más de 118.000 infectados en 114 países con 4.300 fallecidos a esa fecha, la organización mundial de la salud declaró a la enfermedad COVID-19, causada por 2019-nCoV, como una pandemia.

Undernutrition measured by the Mini Nutritional Assessment (MNA) test and related risk factors in older adults under hospital emergency care.

OBJECTIVES: In developed countries, undernutrition affects mostly older adults, worsens with hospitalization, and affects immune response, with higher rates of infection and delayed wound healing-which leads to an increase in hospital stay and health costs. The aim of this study was to assess the prevalence of undernutrition and related risk factors in a sample of older adults who presented at the emergency room (ER) of a university hospital in Spain. METHODS: This was a cross-sectional study of 288 patients ≥70 y of age who were seen at the emergency department at the University Hospital of Valladolid. Variables of nutritional evaluation, including a Mini Nutritional Assessment Test, sociodemographic factors, comorbidities, chronic treatments, frequency of visits to the ER, and destination after hospital discharge were collected. RESULTS: The percentage of undernutrition was 14.9% and the risk for undernutrition was 54.5%. Most patients were able to independently conduct basic activities of daily living (BADLs), lived at home, resided in an urban environment, and had autonomous mobility. The mean body mass index (BMI) was 26.14 ± 4.52 kg/m2. Patients who were dependent on others for BADLs; institutionalized or bedridden; and with hematologic disease, chronic depressive syndrome, polymedication, low hemoglobin or low hematocrit, and hypochromia were associated with a higher prevalence of undernutrition. In the multivariate analysis, for each unit of increase in BMI, patients had 12% lower risk for developing undernutrition, and for each unit of increase in the frequency of ER visits, patients had a 41% higher risk for developing undernutrition. CONCLUSIONS: Older adults who presented to the ER had a high percentage of undernutrition, which is related to sociodemographic factors, comorbidities, polymedication, and biochemical factors. We also found a direct association between the frequency of ER visits and undernutrition, in addition to an inverse relationship with BMI. Detecting undernutrition in an ER may improve health and reduce related complications in older adults.

Correction to: X-linked hypophosphatemia and growth.

The authors of the article would like to note an error in the acknowledgements section of this paper.

Iberian Cured-Ham Consumption Improves Endothelial Function in Healthy Subjects.

OBJECTIVES: Previous studies have shown that dietary components such as oleic acid or polyphenols exert beneficial effects on endothelium. We aimed to assess the impact of regular consumption of Iberian cured-ham (ICH) on endothelial function. DESIGN: An open-label, randomized controlled parallel study. SETTING: Volunteers recruited through advertisements at a hospital in Madrid, Spain. PARTICIPANTS: 102 Caucasian adults (76.8% females) aged 25-55 years, and free from cardiometabolic disease. INTERVENTION: Participants were randomized to an ICH-enriched ad libitum diet or an ad libitum diet without ICH for 6 weeks. Subjects in ICH group were randomly provided with either acorn- or mixed-fed ICH, and followed up for an additional 6-week period under their usual diet. MEASUREMENTS: Clinical parameters, biomarkers of endothelial function and oxidative stress, microvascular vasodilatory response to hyperemia and arterial stiffness were measured before and after the intervention. RESULTS: After 6 weeks, a larger decrease in PAI-1 was observed in subjects consuming ICH compared to the Control group (-6.2±17.7 vs. 0.3±1.4 ng/ml; p=0.020). Similarly, microvascular vasodilatory response to hyperemia showed a significant increase (112.4±391.7 vs. -56.0±327.9%; p=0.007). However, neither oxidative stress, hemodynamic nor clinical parameters differed significantly over the study. Additionally, after stopping ICH consumption, improvements in PAI-1 remained for 6 additional weeks with respect to baseline (p=0.006). CONCLUSION: The present study demonstrates, for the first time, that regular consumption of ICH improves endothelial function in healthy adults. Strategies aimed to preserve or improve the endothelial function may have implications in vascular aging beyond the prevention of the atherothrombotic disease.

X-linked hypophosphatemia and growth.

X-Linked hypophosphatemia (XLH) is the most common form of hereditary rickets caused by loss-of function mutations in the PHEX gene. XLH is characterized by hypophosphatemia secondary to renal phosphate wasting, inappropriately low concentrations of 1,25 dihydroxyvitamin D and high circulating levels of fibroblast growth factor 23 (FGF23). Short stature and rachitic osseous lesions are characteristic phenotypic findings of XLH although the severity of these manifestations is highly variable among patients. The degree of growth impairment is not dependent on the magnitude of hypophosphatemia or the extent of legs´ bowing and height is not normalized by chronic administration of phosphate supplements and 1α hydroxyvitamin D derivatives. Treatment with growth hormone accelerates longitudinal growth rate but there is still controversy regarding the potential risk of increasing bone deformities and body disproportion. Treatments aimed at blocking FGF23 action are promising, but information is lacking on the consequences of counteracting FGF23 during the growing period. This review summarizes current knowledge on phosphorus metabolism in XLH, presents updated information on XLH and growth, including the effects of FGF23 on epiphyseal growth plate of the Hyp mouse, an animal model of the disease, and discusses growth hormone and novel FGF23 related therapies.

Acrocianosis secundaria a quimioterapia con gemcitabina y cisplatino / Acrocyanosis secondary to chemotherapy with gemcitabine and cisplatin

No disponible

Antigenic and molecular characterisation of Border disease virus associated with high mortality in lambs in Spain.

INTRODUCTION: Border disease virus (BDV) causes congenital disorders in sheep and results in severe, but underestimated, economic losses worldwide. However, information about BDV strains affecting several ruminants worldwide is scarce. Therefore, antigenic and genetic classification of isolates from different geographical regions is important to enhance the knowledge of the epidemiology of BDV. MATERIALS AND METHODS: Five pestiviruses isolated from lambs in an epidemic outbreak with an unusually high mortality in Spain in 1997 were characterised antigenically with a panel of monoclonal antibodies and genetically by sequencing within the 50 untranslated (50UTR) region of the genome. RESULTS: All the isolates were classified as BDV and showed a high homology with the Aveyron strain (Av), which was associated with an epidemic reported in sheep from the Aveyron region of France in 1984. CONCLUSIONS: Classification of the isolates from this study provides valuable information on the molecular epidemiology of BDV.

Seipin deficiency increases chromocenter fragmentation and disrupts acrosome formation leading to male infertility.

The Berardinelli-Seip congenital lipodystrophy type 2 (Bscl2, seipin) gene is involved in adipogenesis. Bscl2-/- males were infertile but had normal mating behavior. Both Bscl2-/- cauda epididymis sperm count and sperm motility were ~20×less than control. Bscl2-/- seminiferous tubules had relatively normal presence of spermatogonia and spermatocytes but had reduced spermatids and sperm. Spatiotemporal expression analyses in Bscl2+/+ testes demonstrated prominent Bscl2 transcriptional activity in spermatocytes with a plateau reached around postnatal day 28. Seipin protein localization was most abundant in postmeiotic spermatids, suggesting translational repression of Bscl2 mRNA in spermatocytes. In situ end-labeling plus detected increased spermatid apoptosis in Bscl2-/- testis and annexin V detected increased percentage of positive Bscl2-/- round spermatids compared with control. Immunofluorescence of marker proteins synaptonemal complex proteins 3 and 1 (SYCP3 and SYCP1), and H3K9me3 (histone H3 trimethylated at lysine 9) in germ cell spreads detected normal meiotic chromosome pairing and homologous chromosome synapsis in Bscl2-/- spermatocytes, but significantly increased percentages of round spermatids with chromocenter fragmentation and late spermatids and sperm with chromatin vacuoles, indicating defective chromatin condensation in Bscl2-/- spermatids. Bscl2-/- late spermatids were disorganized within the seminiferous epithelium, despite normal appearance of Sertoli cells detected by vimentin immunofluorescence. Peanut agglutinin staining revealed various abnormalities of acrosomes in Bscl2-/- late spermatids, including the absence, irregular-shaped, and fragmented acrosomes, indicating defective acrosome formation in Bscl2-/- late spermatids, which may affect late spermatid orientation in the seminiferous epithelium. Mitotracker strongly stained the midpiece of control sperm but only very weakly labeled the midpiece of Bscl2-/- sperm, indicating defective mitochondrial activity that most likely contributed to reduced Bscl2-/- sperm motility. These data demonstrate novel roles of seipin in spermatid chromatin integrity, acrosome formation, and mitochondrial activity. Increased spermatid apoptosis, increased chromocenter fragmentation, defective chromatin condensation, abnormal acrosome formation, and defective mitochondrial activity contributed to decreased sperm production and defective sperm that resulted in Bscl2-/- male infertility.

Tratamiento de la coartación de aorta en el paciente adulto / Traitment of the aorta coarctation in adult patient

La Coartación de Aorta supone un 5-8 % de todas las lesiones cardiovasculares congénitas con muy mal pronóstico si permanece sin tratar. Se ha realizado una revisión del tratamiento de esta patología en el paciente adulta, tanto en coartaciones nativas que no son diagnosticadas hasta esta edad como en recoartaciones en pacientes intervenidos en la infancia. Se han comparado los resultados descritos en la literatura de la cirugía abierta con las técnicas endovasculares, angioplastia y stent. El tratamiento endovascular aparece como la técnica de elección en los casos de recoartación y en el manejo de las complicaciones. En el tratamiento de la Coartación de Aorta nativa en el paciente adulto, la cirugía convencional presenta muy buenos resultados con muy baja morbimortalidad, las técnicas endovasculares presentan resultados equiparables en cuanto a morbimortalidad con la ventaja de ser una opción menos agresiva y con menor coste sanitario. Dentro de las técnicas endovasculares, los mejores resultados se han obtenido con la implantación de stents expandibles con balón (AU)

Aortic coarctation comprises 5-8% of all congenital heart defects with very poor prognosis if left untreated. It has conducted a review of the treatment of this disease in the adult patient, both native coarctations that are not diagnosed until this age, as recoarctations in patients treated in childhood. We compared the results described in the literature of open surgery with endovascular techniques, angioplasty and stent. Endovascular treatment appears as the technique of choice in cases of recoarctation and management of complications. In the treatment of aortic coarctation in adult patients, conventional surgery has good results with low morbidity, endovascular techniques have comparable results in terms of morbidity and mortality with the advantage of being a less aggressive and lower health care costs. In endovascular techniques, the best results have been obtained with the balloon expandable stents implantation (AU)

Manejo endovascular de la disecciones Tipo A / Endovascular management of type a dissections

La Diseccion tipo A, es una patología con altísima morbi-mortalidad, sobre todo con puerta de entrada en aorta ascendente. El tratamiento convencional mediante parada cardiaca y by pass cardio-pulmonar presenta elevado riesgo quirúrgico, por lo que el tratamiento endovascular cada vez más proximal en aorta torácica, trata de brindar una solución menos invasiva para un grupo seleccionado de pacientes. El desarrollo de nuevos dispositivos mejor adaptados para aorta proximal, podrán brindar soluciones cada vez más satisfactorias, para éste tipo de patología aórtica compleja en un futuro (AU)

Type A aortic dissection is a disease with a high morbidity and mortality, especially in dissections with entrance in the ascending aorta. Conventional treatment with cardiac arrest and cardiopulmonary bypass has a high surgical risk. Endovascular treatment in the proximal thoracic aorta seeks to provide a less invasive solution for a selected group of patients. The development of new and better suited devices for the proximal aorta may provide satisfactory solutions for this type of complex aortic disease in the future (AU)