About half of people with trisomy 21 have a congenital heart defect (CHD), whereas the remainder have a structurally normal heart, demonstrating that trisomy 21 is a significant risk factor but is ...not causal for abnormal heart development. Atrioventricular septal defects (AVSD) are the most commonly occurring heart defects in Down syndrome (DS), and ∼65% of all AVSD is associated with DS. We used a candidate-gene approach among individuals with DS and complete AVSD (cases = 141) and DS with no CHD (controls = 141) to determine whether rare genetic variants in genes involved in atrioventricular valvuloseptal morphogenesis contribute to AVSD in this sensitized population. We found a significant excess (p < 0.0001) of variants predicted to be deleterious in cases compared to controls. At the most stringent level of filtering, we found potentially damaging variants in nearly 20% of cases but fewer than 3% of controls. The variants with the highest probability of being damaging in cases only were found in six genes: COL6A1, COL6A2, CRELD1, FBLN2, FRZB, and GATA5. Several of the case-specific variants were recurrent in unrelated individuals, occurring in 10% of cases studied. No variants with an equal probability of being damaging were found in controls, demonstrating a highly specific association with AVSD. Of note, all of these genes are in the VEGF-A pathway, even though the candidate genes analyzed in this study represented numerous biochemical and developmental pathways, suggesting that rare variants in the VEGF-A pathway might contribute to the genetic underpinnings of AVSD in humans.
Background
Compressive osseointegration is as an alternative to traditional intramedullary fixation. Two- to 10-year survivorship and modes of failure have been reported; however, as a result of ...relatively small numbers, these studies are limited in their ability to identify risk factors for failure.
Questions/purposes
(1) What is survivorship free from aseptic mechanical and survivorship free from overall failure of compressive osseointegration fixation? (2) What patient factors (age, sex, body mass index BMI, anatomic location of reconstruction, indication for reconstruction, radiation, chemotherapy) are associated with increased risk of failure?
Methods
Between 2006 and 2014, surgeons at one center treated 116 patients with 137 Compress
®
implants for lower extremity oncologic reconstructions, revision arthroplasty, and fracture nonunion or malunion. One hundred sixteen implants were available for review with a minimum of 2-year followup (mean, 4 years; range, 2–9 years). Kaplan-Meier survival plots were produced to examine survivorship and Cox regression modeling was used to generate hazard ratios (HRs) for potential risk factors for failure. Patient factors (age, sex, BMI, anatomic location of reconstruction, indication for reconstruction, radiation, chemotherapy) were obtained from chart review and an institutional database.
Results
Survivorship free from aseptic mechanical failure was 95% (95% confidence interval CI, 91%–99%) at 18 months and 93% (95% CI, 86%–99%) at 4 years. Survivorship free from overall failure was 82% (95% CI, 75%–89%) at 18 months and 75% (95% CI, 66%–84%) at 4 years. Risk of overall failure was increased with reconstruction of the proximal tibia (HR, 4.42; 95% CI 0.98–19.9) and distal femur (HR, 1.74; 95% CI, 0.50–6.09) compared to the proximal femur (HR, 1; referent; p = 0.049). Risk of aseptic mechanical failure was increased with reconstruction of the proximal tibia (HR, 1; referent) and distal femur (HR, 0.37; 95% CI, 0.08–1.77) compared with the proximal femur (HR, 0, p = 0.048). Radiation was associated with increased risk of overall failure (HR, 3.85; 95% CI, 1.84–8.02; p < 0.003), but not aseptic mechanical failure. Age, sex, BMI, chemotherapy, and surgical indication were not associated with increased risk of aseptic or overall failure.
Conclusions
This study questions the use of age as a contraindication for the use of this technology and suggests this technology may be considered in proximal femoral reconstruction and for patients with indications other than primary oncologic reconstructions. Future research should establish long-term survivorship data to compare this approach with conventional intramedullary stems and to evaluate the potential benefits of preventing stress shielding and preserving bone stock in revision situations.
Level of Evidence
Level III, therapeutic study.
El género de hongos Trichoderma han sido muy utilizados en agricultura como controladores biológicos gracias a su capacidad para excretar enzimas exógenas que les permiten actuar como biopesticidas. ...Este hongo tiene la capacidad de crecer en diversos hábitats, y se los encuentra comúnmente en el suelo y en materia en descomposición. Su papel como promotor de crecimiento vegetal se debe a la capacidad de colonizar rápidamente las raíces de la planta protegiéndolas del ataque de fitopatógenos, lo que se traduce en un incremento en el crecimiento y por la exudación de fitohormonas o la solubilización de fosfatos, Fe, Mn, Mg. El objetivo de este trabajo fue aislar cepas nativas de Trichoderma spp. presentes en el suelo de la hacienda “La Alegría” ubicada en el cantón Pedro Moncayo para su posterior evaluación como promotoras de crecimiento vegetal en pasturas de raygrass y trébol blanco. Las cepas aisladas fueron identificadas mediante claves morfológicas como Trichoderma harzianum y Trichoderma viride. El efecto como promotor de crecimiento se evaluó en campo, en potreros previamente establecidos. Se realizaron tres cortes con un periodo de 45 días, después de cada corte se fertilizaron los potreros con soluciones líquidas del hongo a una concentración de 106 , materia orgánica (Compost 45% MO) y fertilizante químico (Fertiforraje). Los tratamientos que mejores resultados arrojaron fueron T1 con un promedio de materia verde de 12,72 TM/ha/corte y T6 con un promedio de 11,55 TM/ha/corte, en comparación con el testigo y el tratamiento químico.
Consultation-liaison psychiatrists are called upon to address clinical “gray areas” and diagnostic uncertainty as well as manage treatment team dynamics in the collaborative care of hospitalized ...patients with eating disorders. This article is one of a series coordinated by APA’s Council on Consultation-Liaison Psychiatry and the Academy of Consultation-Liaison Psychiatry.
Consultation-liaison psychiatrists are called upon to address clinical “gray areas” and diagnostic uncertainty as well as manage treatment team dynamics in the collaborative care of hospitalized patients with eating disorders. This article is one of a series coordinated by APA’s Council on Consultation-Liaison Psychiatry and the Academy of Consultation-Liaison Psychiatry.
Abstract 5065
Recent studies have found immunoparesis (suppression of an uninvolved heavy-chain immunoglobulin (Ig) isotype; e.g. low quantitative IgA and/or IgM levels in a patient with an IgG ...M-spike) to be an independent risk factor for transformation from smoldering multiple myeloma (SMM) to multiple myeloma (MM). About 70–80% of SMM patients have evidence of immunoparesis. Among remaining 20–30% of SMM patients without immunoparesis, it is currently unknown whether there could be a hidden immunoparesis, reflected in suppression of the uninvolved light chain counter part of the same heavy-chain Ig isotype (e.g. IgG kappa in a patient with an IgG lambda M-spike), which in turn may be associated with adverse biology.
A total of 50 SMM patients were enrolled in the first analysis of this prospective study (target: 124 SMM patients). At baseline, a bone marrow core biopsy/aspirate was conducted, and comprehensive immunohistochemistry and flow cytometry analyses were done to confirm the diagnosis and to generate risk profile data for individual patients. For each patient we obtained peripheral blood at baseline. Using serum, we performed the following clinical analyses: serum protein electrophoresis (SPEP); immunofixation electrophoresis (IFE); serum free light chains (sFLC); and quantitative Ig levels for IgG, IgA, and IgM. Using the Hevylite™ assay on a SPAplus (Specialty Protein Analyzer) platform, for each patient, we measured the heavy-light chain (HLC) protein pairs for the complete pair of the patient’s heavy-chain Ig isotype (e.g. IgG kappa and IgG lambda for a patient with an IgG M-spike).
Consistent with the literature; overall, we found 32/50 (64%) SMM patients to have immunoparesis of an uninvolved heavy-chain Ig isotype; 31 (97%) of these patients also had suppression of the uninvolved HLC counterpart. Among remaining SMM patients without immunoparesis of an uninvolved heavy-chain Ig isotype, using the Hevylite™ assay we found 8/18 (44%) to have a hidden immunoparesis of the uninvolved HLC counterpart. Compared to SMM patients without any type of Ig suppression, adverse biological features were profound in patients with a hidden immunoparesis of the uninvolved HLC counterpart. For example, the FLC-ratios were more skewed (mean: 14.2 vs. 2.5), the distribution of abnormal/normal plasma cells was more pronounced (90.1% vs. 80.3%), the concentration of the M-spike was higher (1.4 g/dL vs. 1.0 g/dL), and the plasma cell percentage in the bone marrow was higher (15.1% vs. 11.9%).
In conclusion, using the Hevylite™ assay we identified, for the first time, among SMM patients without immunoparesis, a hidden immunoparesis of the uninvolved HLC counterpart, associated with adverse biological features. Our ongoing prospective study will evaluate whether immunoparesis of the uninvolved HLC counterpart is associated with an increased risk of progression to MM.
No relevant conflicts of interest to declare.
Introducción: el compromiso académico hace referencia a la predisposición que los estudiantes tienen a participar de manera activa en la vida universitaria, asistiendo a las clases, entregando los ...trabajos a tiempo y siguiendo las instrucciones de los docentes. Existe evidencia que demuestra que el compromiso académico predice positivamente el éxito de los estudiantes. Por esta razón, es que su evaluación cobra gran relevancia para el ámbito educativo universitario a la hora de diseñar prácticas pedagógicas que estimulen el compromiso de los alumnos. El objetivo del presente trabajo fue adaptar y validar la versión del University Student Engagement Inventory (USEI) al español, contemplando diferencias lingüísticas y culturales de tres países hispanohablantes. Método: participaron 921 estudiantes universitarios de España, Argentina y Uruguay. Se aplicó el USEI que consta de 15 afirmaciones agrupadas en tres dimensiones de compromiso: conductual, cognitivo, emocional. Resultados: después de que tres traductores realizaran la adaptación lingüística del instrumento, nueve jueces expertos analizaron el contenido de los ítems y conservaron como resultado la totalidad de los reactivos. Más adelante, se analizó y verificó la estructura interna del instrumento —análisis factorial confirmatorio, validación cruzada, invarianza factorial, consistencia interna—, y también se obtuvo adecuada evidencia de validez externa concurrente entre las dimensiones del USEI y los enfoques de aprendizaje. Conclusión: se obtuvo una versión en español del USEI con adecuadas propiedades psicométricas que puede ser empleado en el ámbito de aplicación con el propósito de identificar el compromiso académico de los estudiantes y proponer acciones orientadas a mejorar sus aprendizajes.
Celotno besedilo
Dostopno za:
DOBA, IZUM, KILJ, NUK, PILJ, PNG, SAZU, SIK, UILJ, UKNU, UL, UM, UPUK
La mayoría de estudios sobre el shipibo-konibo, lengua de la familia lingüística pano hablada principalmente en el departamento amazónico de Ucayali (Perú), se centra en el análisis gramatical. Son ...escasos los estudios sobre las capacidades lingüísticas y comunicativas en shipibo y castellano de niños y niñas bilingües escolarizados en el modelo de educación intercultural bilingüe (EIB). En este sentido, nuestra propuesta se destina al análisis de un género textual determinado, las recetas escritas en esas dos lenguas por niños y niñas de entre 11 y 13 años de edad que comparten el mismo espacio de aprendizaje. Siguiendo la metodología utilizada en investigaciones sobre adquisición y aprendizaje de lenguas en el contexto de una lengua minorizada (Idiazábal y García-Azkoaga, 2015; Manterola, 2012; Díaz de Gereñu y García-Azkoaga, 2016, entre otros), abordamos el estudio desde una perspectiva sociodiscursiva que considera el texto como la unidad comunicativa pertinente para dar cuenta de las capacidades de los alumnos. Analizamos los siguientes aspectos textuales: estructura, conexión, cohesión y marcas de responsabilidad enunciativa. Los resultados obtenidos nos permiten identificar los recursos empleados por los alumnos y conocer así los aspectos en los que debemos incidir para contribuir a mejorar la comunicación escrita del género textual analizado. Palabras clave: educación bilingüe; lenguas minoritarias; aprendizaje de lenguas; género textual; shipibo-konibo. The majority of studies on the Shipibo-Konibo, language of the Pano linguistic family spoken mainly in the Amazonian department of Ucayali (Peru), are focused on its grammatical analysis. There exist few studies devoted to analyse the communicative skills in Shipibo and Spanish of bilingual children enrolled in the intercultural bilingual education model (EIB). In this sense, we analyze a particular textual genre, recipes written in those languages by children between 11 and 13 who share the same learning environment. Following the methodology used in research on acquisition and language learning in the context of a minority language (Idiazábal and Garcia-Azkoaga, 2015; Manterola, 2012; Díaz de Gereñu and Garcia-Azkoaga, 2016, among others), we address the study from a socio-discursive perspective that considers the text as piece to account for the abilities of students. We analyze the following textual aspects: structure, connection, cohesion, and enunciative marks like modalization and voices. The results allow us to identify the resources used by the students and to distinguish the aspects on which we can influence to help them improve written communication of the analyzed text genre. Keywords: bilingual education; minority languages; language learning; text genre; Shipibo-Konibo.
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