[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.

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.

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.

Dynamics of cohesin subunits in grasshopper meiotic divisions.

The cohesin complex plays a key role for the maintenance of sister chromatid cohesion and faithful chromosome segregation in both mitosis and meiosis. This complex is formed by two structural maintenance of chromosomes protein family (SMC) subunits and two non-SMC subunits: an α-kleisin subunit SCC1/RAD21/REC8 and an SCC3-like protein. Several studies carried out in different species have revealed that the distribution of the cohesin subunits along the chromosomes during meiotic prophase I is not regular and that some subunits are distinctly incorporated at different cell stages. However, the accurate distribution of the different cohesin subunits in condensed meiotic chromosomes is still controversial. Here, we describe the dynamics of the cohesin subunits SMC1α, SMC3, RAD21 and SA1 during both meiotic divisions in grasshoppers. Although these subunits show a similar patched labelling at the interchromatid domain of metaphase I bivalents, SMCs and non-SMCs subunits do not always colocalise. Indeed, SA1 is the only cohesin subunit accumulated at the centromeric region of all metaphase I chromosomes. Additionally, non-SMC subunits do not appear at the interchromatid domain in either single X or B chromosomes. These data suggest the existence of several cohesin complexes during metaphase I. The cohesin subunits analysed are released from chromosomes at the beginning of anaphase I, with the exception of SA1 which can be detected at the centromeres until telophase II. These observations indicate that the cohesin components may be differentially loaded and released from meiotic chromosomes during the first and second meiotic divisions. The roles of these cohesin complexes for the maintenance of chromosome structure and their involvement in homologous segregation at first meiotic division are proposed and discussed.

El juego del espejo: diferencias entre díadas madre-hijo urbanas y rurales mapuche en Chile / Mirror game: differences between urban and Mapuche rural mother-infant dyads

Body image is a cognitive construction, the precursor of identity, based on the experience with a mirror. The mother and the child use this external device in a complex representational game prior to language. objective: To describe and analyze the mirror-child interaction and mother-child-mirror game to identify the construction of realities and representations in preverbal children by comparing two different populations of the Chilean culture. subjects and Methods: qualitative and quantitative, non-experimental, descriptive and comparative study where categories of interaction between mother and child in the mirror are created and their association with sociodemographic variables are evaluated. 49 Mapuche rural and urban mother-child interaction videos in the presence of a mirror at eating and feeding times are assessed, interactional categories emerged which become the observation instrument used. results: Different ways to play from the child perspective and the mother-child dyad are reported in different degrees of cognitive and relational complexity, significant differences between both populations are observed. Urban children developed integrated games (p 0.0013) and games of four players (p 0.001), while the Mapuche play mostly by themselves (p 0.0014). Infants older than 13 months make more complex games (p 0.026). The parallel (not looking at the mirror) and the dyadic game correlate positively with the rural unmarried Mapuche mother, and if there is a history of alcoholism and depression, they are prompt to play in groups of four. Conclusions: Qbservation categories and stages of relational complexity in front of the mirror emerged, which reflect the cognitive and relational development of children. Differences were observed in the study populations, possibly due to cultural differences. It is suggested to use this study as development diagnosis and monitoring.

La imagen corporal es una construcción cognitiva, precursora de la identidad, basada en la experiencia del espejo. La madre y el niño usan este dispositivo externo en un juego representacional complejo anterior al lenguaje. objetivo: Describir y analizar la interacción niño-espejo, y el juego madre-hijo-espejo, para identificar la construcción de realidades y representaciones en niños pre-verbales comparando dos poblaciones chilenas de diferente cultura. Pacientes y Método: Estudio cualicuantitativo, no experimental, descriptivo y comparativo donde se crean categorías de interacción entre la madre y el niño ante el espejo y se evalúa su asociación con variables sociodemográficas. Se evalúan 49 vídeos de interacciones madre-hijo urbanos y rural-mapuches en presencia de un espejo durante el comer y dar de comer, emergen categorías interaccionales que a su vez constituyen el instrumento de observación utilizado. resultados: Se reconocen formas de juego desde la perspectiva del niño y la diada madre-hijo en distintos grados de complejidad cognitiva y relacional, observándose diferencias significativas entre ambas poblaciones. Los niños urbanos hacen juego integrado (p 0,0013) y juego de a cuatro (p 0,001), mientras los mapuche juegan más solos (p 0,0014). Los > 13 meses hacen juegos más complejos (p 0,026). El juego paralelo (no mirar el espejo) y juego diádico, se correlacionan positivamente con la madre rural mapuche conviviente y si hay antecedentes de alcoholismo y depresión, hacen más juego de a cuatro. Conclusiones: se aportan categorías de observación y estadios de complejidad relacional delante del espejo que dan cuenta del desarrollo cognitivo y relacional del niño. se evidencian diferencias en las poblaciones estudiadas posiblemente por diferencias culturales. se sugiere utilizarlo como diagnóstico y seguimiento del desarrollo.

Effect of feeding fescue seed containing ergot alkaloid toxins on stallion spermatogenesis and sperm cells.

The cellular effects of tall fescue grass-associated toxic ergot alkaloids on stallion sperm and colt testicular tissue were evaluated. This was a continuation of an initial experiment where the effects of toxic ergot alkaloids on the stallion spermiogram were investigated. The only spermiogram parameter in exposed stallions that was affected by the toxic ergot alkaloids was a decreased gel-free volume of the ejaculate. This study examined the effect of toxic ergot alkaloids on chilling and freezing of the stallion sperm cells. The effect of toxic ergot alkaloids on chilled extended sperm cells for 48 h at 5°C was to make the sperm cells less likely to undergo a calcium ionophore-induced acrosome reaction. The toxic ergot alkaloids had no effect on the freezability of sperm cells. However, if yearling colts were fed toxic ergot alkaloids, then the cytological analysis of meiotic chromosome synapsis revealed a significant increase in the proportion of pachytene spermatocytes showing unpaired sex chromosomes compared to control spermatocytes. There was little effect of ergot alkaloids on adult stallions, but there might be a significant effect on yearling colts.

Distribution of repetitive DNAs and the hybrid origin of the red vizcacha rat (Octodontidae).

Great genome size (GS) variations described in desert-specialist octodontid rodents include diploid species ( Octomys mimax and Octodontomys gliroides ) and putative tetraploid species ( Tympanoctomys barrerae and Pipanacoctomys aureus ). Because of its high DNA content, elevated chromosome number, and gigas effect, the genome of T. barrerae is claimed to have resulted from tetraploidy. Alternatively, the origin of its GS has been attributed to the accumulation of repetitive sequences. To better characterize the extent and origin of these repetitive DNA, self-genomic in situ hybridization (self-GISH), whole-comparative genomic hybridization (W-CGH), and conventional GISH were conducted in mitotic and meiotic chromosomes. Self-GISH on T. barrerae mitotic plates together with comparative self-GISH (using its closest relatives) discriminate a pericentromeric and a telomeric DNA fraction. As most of the repetitive sequences are pericentromeric, it seems that the large GS of T. barrerae is not due to highly repeated sequences accumulated along chromosomes arms. W-CGH using red-labeled P. aureus DNA and green-labeled O. mimax DNA simultaneously on chromosomes of T. barrerae revealed a yellow-orange fluorescence over a repetitive fraction of the karyotype. However, distinctive red-only fluorescent signals were also detected at some centromeres and telomeres, indicating closer homology with the DNA sequences of P. aureus. Conventional GISH using an excess of blocking DNA from either P. aureus or O. mimax labeled only a fraction of the T. barrerae genome, indicating its double genome composition. These data point to a hybrid nature of the T. barrerae karyotype, suggesting a hybridization event in the origin of this species.

Hipertensión arterial maligna secundaria a glomerulonefritis membranosa / Malignant hypertension secondary to membranous glomerulonephritis

Presentamos el caso de un varón de 68 años que ingresó por emergencia hipertensiva con deterioro de la función renal y necesidad de hemodiálisis, junto con síndrome nefrótico. El fondo de ojo mostró retinopatía hipertensiva grado III y en la biopsia renal se observó una glomerulonefritis membranosa con los signos de la hipertensión arterial maligna. Se pautó tratamiento inmunosupresor e hipotensor, con mejoría importante de la clínica (AU)

We report the case of a 68-year old man who was admitted for a hypertensive emergency with impaired renal function which required hemodialysis, and a nephrotic syndrome. The fundus of the eye study showed hypertensive retinopathy grade III and the renal biopsy showed a membranous glomerulonephritis and renal signs of malignant hypertension. Immunosuppresive and antihypertensive treatment were prescribed, with significant clinical improvement (AU)

Características nutricionales y estilo de vida en universitarios / Nutritional characteristics and lifestyle in university students

La obesidad y el estilo de vida característico de nuestra sociedad llevan a los jóvenes a situaciones de potencial riesgo cardiovascular. El objetivo de este estudio fue valorarla situación antropométrica y estilo de vida de una muestra de universitarios. Se realizó una valoración antropométrica completa, incluyendo un análisis por impedancia bioeléctrica (AIB), a 111 estudiantes de último curso de Nutrición Humana y Dietética, así como una encuesta sobre su estilo de vida (actividad física, tabaquismo y consumo de alcohol). Se encontró un dimorfismo sexual en la distribución del peso según la clasificación propuesta por la SEEDO: un 6,4% de mujeres presentaron un peso inferior al saludable (ningún hombre se encontraba en este grupo), mientras que un 27,8% hombres y un 6,5% mujeres estaban en rango de sobrepeso. Un 15,3% de casos presentó un perímetro de cintura excesivo. La masa grasa, hallada por AIB, fue superior en las mujeres. Por otro lado, un 67% de universitarios declararon realizar ejercicio físico habitualmente, un 16,7% se declararon fumadores, y un 55,6% declararon consumo de alcohol de alta graduación. En conclusión, nos encontramos ante una población de sujetos jóvenes y sanos donde, sin embargo, aparece un significativo porcentaje de mujeres en peso inferior al saludable, personas con sobrepeso, fumadores bebedores de alcohol de alta graduación de manera habitual. Estos datos deben poner en aviso de que el grupo de población universitaria está en riesgo de sufrir patologías cardiovasculares en un futuro si no se actúa, y no deben estar olvidados en los planes de promoción de la salud (AU)

Obesity and the lifestyle characteristic of our society lead young people to conditions of potential cardiovascular risk. The aim of this study was to assess the anthropometrical situation and the lifestyle in a sample of university students. A full anthropometrical evaluation was undertaken, including bioelectric impedance analysis(BIA), in 111 students in the last year of Human Nutrition and Dietetics, as well as a lifestyle questionnaire (physical activity, alcohol and cigarette consumption). A sexual dimorphism was found in weight distribution according to the classification proposed by SEEDO: 6.4% of women presented a weight lower than the health recommendations (there no men in this group) where as 27.8% of men and 6.5% of women were in the overweight range. 15.3% of the cases had excessive waist circumference. Fat mass by BIA was higher among women. On the other hand,67% of university students stated to perform regular physical activity, 16.7% stated being cigarette smokers, and 55.6% stated to consume high-grade alcohol. To conclude, we studied a sample population of young and healthy subjects with, however, a significant percentage of women with body weight lower than the healthy standards, over weighed people, and smokers usually taking high-grade alcohol. These data should elicit an alert of the potential cardiovascular risk in the university population if action is not taken. This population should be included in the health promotion plans (AU)

[Steroid infiltrations in orthopedics]. / Infiltraciones con esteroides en ortopedia.

For the past 60 years intraarticular infiltrations have been performed with variable results. However, they have improved with time as a result of the innovations seen in the techniques and the glucocorticoids used, according to reports by several authors. We report the experience and results obtained in 10 years in 793 patients applying 5 mg of betamethasone dipropionate and 2 mg of betamethasone sodium phosphate (Diprospan). This was a retrospective, therapeutic and cross-sectional study. Betamethasone was combined with 1 ml of 2% plain lidocaine and 1 ml of bupivacaine or ropivacaine. Infiltrations were used to treat intraarticular conditions, post-traumatic acute inflammatory conditions and degenerative intraarticular conditions of the knee and shoulder. In the soft tissues they were used to treat bursitis, entrapment syndromes, epicondylitis, plantar fasciitis and sprains. Ninety-two percent had an improved clinical picture; it was possible to avoid surgery for several conditions. The conclusion is that infiltrations with betamethasone, both intraarticular and in periarticular structures, are fully justified in orthopedics. If applied properly, they are safe and effective.