A novel homozygous pathogenic missense variant in COX6B1: Further delineation of the phenotype.

Cytochrome c oxidase (COX) deficiency is a phenotypically diverse group of diseases caused by variants in over 30 genes. Biallelic pathogenic variants in COX6B1 have been described in four patients to date with varying disease manifestations. We describe the clinical features and follow-up of a patient with a novel homozygous pathogenic variant in COX6B1 who presented acutely with severe encephalomyopathy associated with an infection. New findings include ophthalmological evaluation and follow-up of neuroradiological investigations. The novel p.Trp31Arg variant was predicted to be pathogenic in silico, and further functional analyses with biochemical analysis of mitochondrial function showed isolated COX deficiency. Muscle biopsy showed a specific lack of COX6B1 protein together with complex IV deficiency on western blot, enzyme histochemistry, and immuno-histochemistry.

Disordered eating in French high-level athletes: association with type of sport, doping behavior, and psychological features.

PURPOSE: Over the last few years, disordered eating in athletes has received increasing attention. According to several studies, athletes could be more vulnerable to disordered eating and some characteristics specific to the athletic community could be in favour of an increased risk of poor body image and disturbed eating habits in athletes. However, the literature is sparse and some methodological issues in studies have been pointed out. In this context, we aimed at determining the prevalence of disordered eating in French high-level athletes using clinical interviews of three different clinicians and identifying what are the factors associated with disordered eating in athletes. METHODS: In France, all athletes registered on the French high-level list have to undergo a yearly evaluation. Data collected during the somatic assessment, the dietary consultation, and the psychological of the yearly evaluation were used. Multivariate analysis was performed for identification of factors associated with disordered eating. RESULTS: Out of the 340 athletes included, 32.9% have been detected with a disordered eating. They were difficult to detect by clinicians, as usual criteria did not seem to be reliable for athletes. Competing in sports emphasizing leanness or low body weight was associated with disordered eating; however, gender was not. CONCLUSION: These results highlight the need for the development of specific screening tools for high-level athletes. Furthermore, the identification of factors associated with disordered eating could improve early detection and prevention program effectiveness.

Effects of 5,8-dimethylthieno[2,3-b]quinoline-2-carboxylic acid on the antioxidative defense and lipid membranes in Plasmodium berghei-infected erythrocytes.

Plasmodium parasites degrade hemoglobin producing reactive oxygen species as toxic byproducts which are detoxified by a series of antioxidant mechanisms. Quinoline compounds have demonstrated activity against hemoglobin degradation with 5,8-dimethylthieno[2,3-b]quinoline-2-carboxylic acid (TQCA) representing a recent compound inhibiting this process. Thus, this study was undertaken to determine the ability of TQCA to modify the oxidative status in Plasmodium berghei-infected erythrocytes. After hemolysis, activities of superoxide dismutase (SOD), catalase (CAT), glutathione peroxidase (GPx), glutathione reductase (GR) and dehydrogenase enzymes as well as lipid peroxidation were investigated by spectrophotometry. Saturated and unsaturated fatty acids were determined by gas-liquid chromatography and the in vivo effects of TQCA were confirmed by a malaria murine model (Rane test). The activity of glucose-6-phosphate dehydrogenase (G6PDH) and 6-phosphogluconate dehydrogenase (6PGDH) in infected cells was diminished by this compound compared to control infection in 75.1 ± 3.5% and 26.5 ± 0.3%, respectively, while that of GPx and GR was also lowered (p <0.05). As an adaptive response we appreciated a 2.3-fold increase of SOD activity compared to control infection. Lipid peroxidation and the saturated/unsaturated fatty acids ratio were also decreased by this quinoline derivate in 49.2 ± 1.32% and 37 ± 0.06%, respectively, protecting the cells from hemolysis caused by the infection. The in vitro results were in concordance with the potential in vivo activity of this compound in an established malaria murine model in which TQCA showed significant decrease in the parasitemia levels and increased the mean survival days of infected mice. In conclusion, the antioxidant defense represents a biochemical target for TQCA actions as a potent antimalarial whose effects were also confirmed in vivo.

Effect of liming and organic and inorganic fertilization on soil carbon sequestered in macro-and microaggregates in a 17-year old Pinus radiata silvopastoral system.

Agroforestry systems have been recognized as a potential greenhouse gas mitigation strategy under the Kyoto Protocol because of their ability to absorb carbon dioxide from the atmosphere and store carbon mainly in the soil. Soil particle size and land management practices are known to have a considerable influence on carbon storage in soils. This study evaluated changes in soil chemical and physical properties, and quantified and compared the amount of C stored in the bulk soil and in three different soil fractions (250-2000, 53-250 and <53 µm) at each of four soil depths (0-25, 25-50, 50-75 and 75-100 cm) in a silvopastoral system located on an acidic forest soil under Pinus radiata D. Don. Areas of this system were subjected ten years ago to one of nine fertilization treatments: three different doses of sewage sludge or no fertilization, all with or without the addition of lime, and mineral fertilizer with no liming. Seventeen years after reforestation and seven years after canopy closure, strong gradients with soil depth were found regarding soil bulk density, pH and carbon storage. Intense soil management (high doses of sewage sludge and liming) generally reduced soil carbon storage, mainly in coarse aggregates, but this could be compensated by the increase in tree and pasture development observed in soils subject to intermediate sewage sludge doses.

Inter-Rater Reliability of the Mentor Behavioral Interaction Rubric.

An objective assessment of a mentor's behavioral skills is needed to assess the effectiveness of mentor training interventions in academic settings. The Mentor Behavioral Interaction (MBI) Rubric is a newly developed, content-valid, observational measure of a mentor's behavioral skill during single-episode interactions with a mentee. The purpose of this study was to assess the inter-rater reliability (IRR) of the MBI Rubric when used to assess video-recorded mentor-mentee interactions. Three of a pool of four faculty raters with expertise in mentor training synchronously rated 26 videos of mentor-mentee interactions using structured guidelines. The MBI Rubric includes six items (Part 1), each with ratings on a 3- or 4-point scale, and ten yes/no items (Part 2) that characterize the content of the interaction. After initial individual ratings were completed, the three raters met, reviewed disagreements, and reached decisions about final item scores by either consensus or majority vote. Mean total Part 1 scores ranged between 1.42-2.69. IRRs ranged from good (Part 1 IRR=0.67) to excellent (Part 2 IRR=0.83). No training effects were observed, with no decrease (i.e., showing less variability) in inter-rater standard deviations over time. Rater effects in initial individual scoring were observed, with a significant difference between one vs. the other three raters on Part 1 individual scores, with no effects for Part 2 scores. Raters tended to score lower on initial individual scores than the final score for both Part 1 and 2. The MBI Rubric is the first observational measure to assess single episodes of video-recorded mentor-mentee interactions and has demonstrated content validity, and now inter-rater reliability. It may be used in parallel with other instruments to measure the efficacy of mentor training. Limitations include possible ceiling effects, and resource-intensive administration in terms of rater expertise and time. Future work will assess the responsiveness of the Rubric to change in mentor skill and construct validity.

Gender Differences in Self-reported Faculty Developmental Networks.

Scholars have long recognized gender variation in social relationship dynamics. However, how gender shapes developmental networking relationships for career advancement, particularly among university faculty members, is understudied. This area of research is important since women comprise an increasing proportion of faculty and yet report receiving less mentoring and lower career satisfaction, productivity, and advancement than their male counterparts. This cross-sectional study assessed gender differences in self-reported dimensions of faculty participants' developmental networks by collecting information on relationships with developers, who are people who have taken concerted action and offered professional and personal guidance to help participants advance in their careers over the past year. The investigators used egocentric network data from an electronically administered Mentoring Network Questionnaire collected from 159 faculty involved in a mentoring intervention during the pandemic. Faculty were from multiple Southwest and Mountain West institutions. Statistical analyses were performed using the Chi-squared test, Wilcoxon rank-sum test, and unadjusted multilevel regression. Female faculty chose developers of lower gender diversity than male faculty (p=0.01). Compared to male faculty, female faculty reported receiving more psychosocial support from individual developers (p=0.03). Female faculty members' developers were more often characterized as friends and less often described as sponsors and allies than male faculty, based on relative levels of career and psychosocial support that individual developers provided (p<0.001). No gender differences were found in other network characteristics. Female faculty build developmental networks that have different factors compared to male faculty. Greater levels of psychosocial support and fewer allies and sponsors for female faculty may have long-term implications for differential career advancement for women vs. men in academic careers. Strategies to enhance networking should address gender differences and include a structured framework for assessing network gaps.

Mentoring Network Questionnaire Support Scales Reliable and Valid with University Faculty.

The Developmental Network Questionnaire (DNQ) is used in business to self-assess relationships with developers, or people who support one's career. The Mentoring Network Questionnaire (MNQ) is an online modification of the DNQ and includes two scales that rate developer's contributions to career or psychosocial help. The psychometrics of these scales for different populations are unreported. This study analyzed the construct validity and reliability of the two scales measuring support provided by developers of university faculty. Mentors and mentees (G=156) from multiple Southwestern and Mountain West universities rated 741 developers on the MNQ's five-item career- and psychosocial-support scales. Participants responded on a seven-point scale ranging from "never, not at all" to "to the maximum extent possible." Multilevel confirmatory factor analysis (MCFA) using Mplus and the multi-level reliability coefficient omega assessed construct validity and internal consistency reliability, respectively. Results supported the validity of two latent constructs of career- and psychosocial support, each measured by the established five-item scale: Comparative fit index (CFI)=.93, Tucker-Lewis Index (TLI)=.91, root mean square error of approximation (RMSEA)=.06, standardized root mean square residual (SRMR): W=.09, B=.10. The measurement model was improved when the "removes barriers" item was removed from the career-support scale (CFI=.96, TLI=.95, RMSEA=.05, SRMR: W=.06 B=.09. Factor loadings at both the within- and between-levels were strong and statistically significant. Reliability omegas ranged from .85 to .92. Career and psychosocial support provided to university faculty by developers in their networks may be validly and reliably measured at both the within- and between-levels by a modified four-item career support scale and the original five-item psychosocial support scale from the DNQ and the modified MNQ. Limitations include reduced statistical power due to small sample size and lack of testing at the university level. Future work will assess the responsiveness of these scales to measuring change over time in the amount of support provided.

Curriculum-based Faculty Training in Networking: Knowledge and Self-efficacy Outcomes.

Although the advantages of developmental networks are well-known, most faculty do not know how to participate in such networks actively. Additionally, institutions face challenges in teaching faculty the best practices of networking. This deficiency constitutes a critical gap in the literature, which may slow career advancement for faculty, particularly from underrepresented groups. The study's purpose was to examine the effectiveness of a curriculum-based faculty training in developmental networks, utilizing the Extension for Community Health Outcomes (ECHO) platform. In this pre-post study, 33 faculty members participated in the intervention utilizing eight modules involving four competencies. Each module followed a standard format, including a short didactic, two facilitated case study discussions based on real-life scenarios, and self-reading of selected literature. Outcomes included (i) change in knowledge scores obtained from two questions per module and (ii) self-efficacy scores measured on a scale of 0-100. Paired student's t-test and mixed model regression analyses were used. A significant increase in knowledge score was documented using mixed model regression for 4 of the eight modules (mean change score 0.4-0.8, p≤0.03 for all analyses). The proportion of faculty participants reporting correct knowledge items for all modules increased from 49.8% (pre) to 64.3% (post), which was statistically significant (p<0.001). Significant increases in paired self-efficacy scores were reported for each of the eight modules (mean change score 17-37, p<0.05 for all analyses). This study highlights the importance of curriculum-based training in networking. Participants showed a significant increase in pre-post networking self-efficacy and knowledge scores. Our ECHO-based curriculum, facilitator training, and manual enable easy implementation in other institutions, ensuring scalability and adaptability. Our analysis provides the evidence basis for examining the impact of a developmental network intervention in enhancing individual career networks.

Development and Content Validity Testing of the Mentor Behavioral Interaction Rubric.

Many mentor training interventions in higher education focus on improving interactions between mentors and mentees. Existing measures of interactions are based on reported perceptions of the mentor or mentee. However, there are currently no objective assessments of the mentor's behavioral skill. The purpose of this study was to develop a Mentor Behavioral Interaction (MBI) Rubric as a measure of a mentor's behavioral skill during single-episode interactions with a mentee. Subsequently, the content validity was assessed. The six items (Part 1), evaluated by five mentoring experts as quantifiable behaviors in any mentor-mentee interaction, were based on the Mentoring Competency Assessment (Fleming et al., 2013). The experts developed scoring criteria (highest, middle, and lowest performance) for each item, and created another eleven items (Part 2) to characterize the content (yes/no) of the interaction. Seven content experts rated the items and scoring criteria using a scale ranging from very (4) to not relevant (1) (Lynn, 1986). Five of the six Part 1 items and scoring criteria, and nine of the eleven Part 2 items had item content validity indices (I-CVI) ≥ 0.86. The Part 1 "motivates" item and scoring, and the Part 2 "personal/professional preferences" item were revised based on expert recommendations. One Part 2 item was deleted. Average scale content validity indices (S-CVI/Ave) were ≥ 0.90. The MBI Rubric is the first measure developed to assess single episodes of videoed mentor-mentee interactions. The Rubric may be used with other measures to assess the effectiveness of mentor training. Limitations include: evaluation of the mentor's behavior without accounting for the mentee's behavior; inability to infer cognitive processes; and focus on the quality of one interaction, rather than the effectiveness of the relationship over time. Future work will assess inter-rater reliability, sensitivity to change, and construct validity for the Rubric.

Organizations' Mentoring Culture is Associated With Mentoring Climate and Involvement.

Organizational culture is the shared, often unspoken, basic values, beliefs, and assumptions. Underlying culture influences organizational climate, the observable policies, practices, and procedures that faculty experience. Yet little is known about mentoring culture and climate in higher education. The purpose of this study was to a) conduct a psychometric evaluation of the 4-item Organizational Culture Mentoring Values (OCuM-V) scale and b) determine if organizational culture, operationalized as values related to mentoring, is associated with organizational mentoring climate (OMC) and involvement with mentoring. 298 [55 under-represented minority (URM)] faculty from University of New Mexico and Arizona State University completed a cross-sectional survey, including the OCuM-V scale and the 15-item OMC Availability (OMCA) scale. Items for both scales were rated No (1), Don't know (0), or Yes (1). Faculty reported if they were being mentored or providing mentoring. Exploratory factor analysis (EFA) and Cronbach's alpha were used for scale evaluation. Spearman correlation and logistic regression were used to assess OCuM-V association with climate and mentoring involvement, respectively. Overall, 24% of faculty were being mentored (27% for URM), and 43% were mentoring (38% for URM). OCuM-V items loaded on a single factor in EFA (Cronbach's alpha=0.84 for all; 0.88 for URM). OCuM-V was positively correlated with OMCA (including institutional expectations, mentor-mentee relationships, and resources subscales) for both all and URM faculty (r>0.4 p<.001 for all). Greater OCuM-V was associated with an increased odds of being mentored (OR=1.75±1.19-2.61) and providing mentoring (OR=1.83±1.30-2.58). Mentoring culture is associated with mentoring climate. Faculty who perceive stronger OCuM-V report a stronger OMC (available structure, programs/activities, policies/guidelines) and are being mentored or providing mentoring more often. Limitations include a small sample size for the URM group and cross-sectional data collection. Organizational leaders should explicitly promote values related to mentoring to strengthen both mentoring culture and climate at their institutions.

Barriers and Challenges for Career Milestones Among Faculty Mentees.

'Critical' career milestones for faculty (e.g., tenure, securing grant funding) relate to career advancement, job satisfaction, service/leadership, scholarship/research, clinical or teaching activities, professionalism, compensation, and work-life balance. However, barriers and challenges to these milestones encountered by junior faculty have been inadequately studied, particularly those affecting underrepresented minorities in science (URM-S). Additionally, little is known about how barriers and challenges to career milestones have changed during the COVID-19 pandemic for URM-S and non-URM faculty mentees in science. In this study, we conducted semi-structured interviews with 31 faculty mentees from four academic institutions (located in New Mexico, Arizona, Idaho, and Hawaii), including 22 URM-S (women or racial/ethnic). Respondents were given examples of 'critical' career milestones and were asked to identify and discuss barriers and challenges that they have encountered or expect to encounter while working toward achieving these milestones. We performed thematic descriptive analysis using NVivo software in an iterative, team-based process. Our preliminary analysis identified five key themes that illustrate barriers and challenges encountered: Job and career development, Discrimination and a lack of workplace diversity; Lack of interpersonal relationships and inadequate social support at the workplace; Personal and family matters; and Unique COVID-19-related issues. COVID-19 barriers and challenges were related to online curriculum creation and administration, interpersonal relationship development, inadequate training/service/conference opportunities, and disruptions in childcare and schooling. Although COVID-19 helped create new barriers and challenges for junior faculty mentees, traditional barriers and challenges for 'critical' career milestones continue to be reported among our respondents. URM-S respondents also identified discrimination and diversity-related barriers and challenges. Subsequent interviews will focus on 12-month and 24-month follow-ups and provide additional insight into the unique challenges and barriers to 'critical' career milestones that URM and non-URM faculty in science have encountered during the unique historical context of the COVID-19 pandemic.

Faculty Rating of the Importance and Availability of Organizational Mentoring Climate.

Organizational climate is the shared perception of and the meaning attached to the policies, practices, and procedures employees experience. University faculty can assess their organizational mentoring climate (OMC) using recently published, reliable, and valid OMC importance (OMCI) and availability (OMCA) scales. Factors affecting the OMC's importance and availability are, however, not known. By studying these factors, organizational leaders can determine whether and how to change the OMC to improve faculty mentoring outcomes. In this cross-sectional study, 300 faculty from the University of New Mexico (Main, Health Sciences Center [HSC] and branch campuses) and Arizona State University (a non-HSC campus) completed the online OMCI and OMCA scales, each with three subscales: Organizational Expectations, Mentor-Mentee Relationships, and Resources. OMCI scale items were rated from very unimportant (1) to very important (5); and, for OMCA, -1 (no), 0 (don't know), 1 (yes). The study used linear regression analysis after normalizing the scales to M=0 and SD=1. Although not explicitly targeted for recruitment, the respondents were predominantly women, non-Hispanic White, senior, tenure-track faculty members who were neither providing mentoring nor receiving mentoring. In the multivariable models, women faculty attached greater importance to mentoring climate components than men. HSC faculty and those receiving mentoring reported greater availability of mentoring climate components than their respective counterparts. Underrepresented minority (URM) faculty did not rate OMCI or OMCA differently than non-URM faculty. Faculty subgroups in this study attached varying levels of importance to the OMC and rated the availability of climate components differently. Factors impacting the importance of the OMC differed from those affecting the perceived availability of the climate components. Based on their relative importance and lack of availability, organizational leaders should create, modify and implement structures, programs, and policies to improve organizational mentoring expectations, mentor-mentee relationships, and mentoring resources, thereby strengthening their OMC.

Developmental Networks Among Mentors and Mentees Involved in a Mentoring Intervention.

The growing application of social network-based theories and methods (Burt et al., 2013) in scholarship on mentoring illustrates that mentoring goes beyond dyadic relationships comprising a senior mentor and a junior protégé (Higgins & Kram, 2001). However, limited data exist on the state of developmental networks of university faculty. This study examines developmental network characteristics among mentors and mentees participating in an ongoing intervention that aims to enhance career success through improved mentoring. Cross-sectional data come from 81 faculty mentors and mentees at three universities in the Southwestern United States. Using the online Modified Mentoring Network Questionnaire (MNQ), participants provided information on relationships with developers, who are people that have taken concerted action, and provided professional and/or personal guidance to help participants advance in their careers. An individual's developmental network comprises relationships with developers. We conducted exploratory analyses examining key characteristics of mentors' and mentees' developmental networks. Participants received psychosocial and career support from an average of 4.9 developers (4.8 and 5.1 for mentors and mentees respectively) from 2.3 arenas (2.2 and 2.4 arenas for mentors and mentees, respectively). While the most common arena was the respondents' current job/position (62%, 64% and 59% for all participants, mentors, and mentees respectively), developers were from graduate school (11%, 6% and 17%); prior jobs/positions (13%, 16% and 9%) and family (8%, 5% and 11%). Our preliminary findings suggest that developers are important for university faculty and that methods and insights from social network analysis can be applied to examine their support networks. As our study is part of an ongoing longitudinal intervention, these findings will inform future analyses that will examine changes in developmental network characteristics and its impact on participants' careers.

Angle-closure glaucoma secondary to ciliary body cysts treated with subliminal transscleral cyclophotocoagulation. Report of a case.

Angle-closure glaucoma secondary to ciliary body cysts is a rare condition. Different pharmacological and surgical treatment modalities have been described. Among these, subliminal transscleral cyclophotocoagulation is a promising alternative due to fewer ocular complications and the same intraocular pressure reducing efficacy. The case is presented of a 33-year-old woman with a 6-year history of uncontrolled ocular hypertension, and a one-month history of glaucoma, treated with multiple drugs and surgical interventions, with persistent elevated intraocular pressure. She came to the clinic due to eye pain and photophobia of the right eye of 3 days onset prior to her visit. An ultrasound biomicroscopy was performed, finding cysts in the ciliary body. It was then decided to perform subliminal transscleral cyclophotocoagulation, achieving a reduction in intraocular pressure, which was maintained after three months of follow-up.

[Prevalence in Mexico of giant cell tumor, osteosarcoma and chondrosarcoma (2013-2017)]. / Prevalencia en México del tumor de células gigantes, osteosarcoma y condrosarcoma (2013-2017).

INTRODUCTION: Primary bone tumors make up 1% of cancers in adults, the most common being osteosarcoma and chondrosarcoma. Giant cell tumor (GCT) is a locally aggressive benign neoplasm, accounting for 4-10% of all primary bone tumors, but in certain populations it accounts for up to 20%. The main objective of this work was to determine the proportion of GCTs, osteosarcomas and chondrosarcomas in a period of five years, and describe the characteristics of the patients from whom they come. Clinical implications: More information about the epidemiology of bone tumors is required to know their epidemiology in the Mexican population. MATERIAL AND METHODS: Descriptive observational study of a retrospective cross section including all patients who underwent surgery for tumoral resection, in public hospitals at national level, and whose histopathological pieces were processed and resulted in tissue compatible with a) GCT, b) osteosarcomas and c) chondrosarcomas. RESULTS: Between 2013 and 2017, 138 cases of the three primary bone tumors studied were reported, giant cell tumor (50%), osteosarcoma (25.36%) and chondrosarcoma (24.64%). The states with the highest number of cases were the state of Mexico (45.65%) and Mexico City (26.81%). Women had a higher prevalence (57.25%) than men (42.75%). The average age of presentation of the tumors was 36.80 years. CONCLUSIONS: GCT is not an uncommon tumor in the Mexican population, since it has its own characteristics.

INTRODUCCIÓN: Los tumores óseos primarios constituyen 1% de los cánceres en el adulto, siendo los más frecuentes el osteosarcoma y el condrosarcoma. La tumoración de células gigantes (TCG) es una neoplasia benigna localmente agresiva, que representa de 4-10% de todos los tumores óseos primarios, pero en ciertas poblaciones representa el hasta 20%. El objetivo principal de este trabajo fue determinar la proporción de los TCG, osteosarcomas y condrosarcomas en un período de cinco años y describir las características de las pacientes de los cuales proceden. Importancia clínica: se requieren más datos acerca de la epidemiología de los tumores de los huesos, para conocer su epidemiología en la población mexicana. MATERIAL Y MÉTODOS: Estudio observacional descriptivo de corte transversal retrospectivo incluyendo a la totalidad de pacientes que fueron intervenidos quirúrgicamente mediante resección tumoral, en los hospitales públicos a nivel nacional, y cuyas piezas histopatológicas fueron procesadas y dieron como resultado tejido compatible con: a) TCG, b) osteosarcomas y c) condrosarcomas. RESULTADOS: Entre el 2013 y 2017 se reportaron 138 casos de los tres tumores óseos primarios estudiados, el tumor de células gigantes (50%), el osteosarcoma (25.36%) y el condrosarcoma (24.64%). Los estados que tuvieron mayor número de incidencias fueron el Estado de México (45.65%) y la Ciudad de México (26.81%). Las mujeres presentaron una mayor prevalencia (57.25%) que los hombres (42.75%). La edad media de presentación de los tumores fue 36.80 años. CONCLUSIONES: El TCG no es una tumoración infrecuente en la población mexicana, ya que cuenta con características propias.

[Basis for the multidisciplinary approach to shoulder pseudoparesis and pseudoparalysis due to rotator cuff pathology]. / Bases para el abordaje multidisciplinario de la seudo paresia y seudo parálisis de hombro por patología del manguito rotador.

INTRODUCTION: The painful shoulder is an entity that generates much of the orthopedic consultations worldwide, although it can affect at any stage of life, its prevalence is higher as age increases. Rotator cuff condition is often the most relevant cause of pain and dysfunction. Two common consequences of rotator cuff condition are pseudoparesis and pseudoparalysis, and even though they share similar etiology and symptomatology, their clinical differentiation is critical for optimal management and timely resolution. OBJECTIVE: To review the theoretical and clinical bases for the differentiation and management of pseudoparesis and pseudoparalysis due to rotator cuff pathology. MATERIAL AND METHODS: Descriptive review of the concepts of pseudoparesis and pseudoparalysis from the orthopedic, physiotherapy and rehabilitation perspective. RESULTS: Once the differences in rotator cuff injury mechanisms and how they translate into painful shoulder semiology are understood, it is possible to integrate a differential diagnosis between pseudoparesia and pseudoparalysis. Diagnosis should integrate specific evaluations and exercises to identify both conditions and, once distinguished and identified, allow optimal guidance of therapeutic approach. CONCLUSION: The differentiation between pseudoparalysis and pseudoparesis allows us to understand the mechanisms of injury and, finally, to provide the optimal treatment for patients with painful shoulder due to rotator cuff pathology.

INTRODUCCIÓN: El hombro doloroso es una entidad que genera gran parte de las consultas de ortopedia a nivel mundial, si bien puede afectar en cualquier etapa de la vida, su prevalencia es mayor conforme aumenta la edad. La afección del manguito rotador suele ser la causa más relevante de dolor y disfunción. Dos consecuencias comunes de la afección del manguito rotador son la seudo paresia y la seudo parálisis y aun cuando comparten una etiología y sintomatología semejantes, su diferenciación clínica es fundamental para su manejo óptimo y resolución oportuna. OBJETIVO: Revisar las bases teóricas y clínicas para la diferenciación y manejo de la seudo paresia y seudo parálisis por patología del manguito rotador. MATERIAL Y MÉTODOS: Revisión descriptiva de los conceptos de seudo paresia y seudo parálisis desde la perspectiva ortopédica, de fisioterapia y rehabilitación. RESULTADOS: Una vez que se comprenden las diferencias en los mecanismos de lesión del manguito rotador y el modo en el que se traducen en la semiología del hombro doloroso, es posible integrar un diagnóstico diferencial entre seudo paresia y seudo parálisis. El diagnóstico debe integrar las evaluaciones y ejercicios específicos para que permitan identificar ambas condiciones y, una vez que se han distinguido e identificado, permitirá orientar el abordaje terapéutico de manera óptima. CONCLUSIÓN: La diferenciación entre seudo parálisis y seudo paresia permite comprender los mecanismos de lesión y, finalmente, proporcionar el tratamiento óptimo a los pacientes con hombro doloroso por patología del manguito rotador.

[Main causes of orthopedic external consultation in a Second Level Clinic in Mexico]. / Principales motivos de consulta externa ortopédica en un hospital de segundo nivel en México.

INTRODUCTION: The epidemiology of diseases allows the generation of preventive measures, for the modification of their natural evolution or to prevent their appearance. In second-level hospitals of care, most of the pathologies of each medical specialty are treated. Therefore, knowing the main reasons for external consultation in orthopedics and their seasonal predominance is a tool for implementing strategies for the benefit of patients. MATERIAL AND METHODS: Observational study carried out with the patient population of the external orthopedic consultation service of a second-level hospital of care, from January to December 2017. Patients over the age of 18 who first attended consultation were included. RESULTS: 11,704 consultations granted in the period, 7,862 (67.17%) women and 3,842 (32.82%) men. The average age of patients was 51.84 ± 0.14. The most common cause of consultation was arthropathies (47.65%). During the autumn, the largest number of consultations (32.33) were granted. CONCLUSIONS: Arthropathies, specifically gonarthrosis, were the main reason for external consultation, accounting for nearly half of the consultations granted. It is transcendental to identify the modifiable risk factors of these pathologies with the aim of reducing the negative impact it generates at the functional, economic and quality of life level. Clinical relevance: Further epidemiological studies on orthopedic pathologies will improve preventive strategies and optimize resources to improve patient care.

INTRODUCCIÓN: La epidemiología de las enfermedades permite la generación de medidas preventivas para la modificación de su evolución natural o para evitar su aparición. En los hospitales de segundo nivel de atención se tratan la mayor parte de las patologías de cada especialidad médica. Por lo tanto, saber los principales motivos de consulta externa en ortopedia y su predominio estacional es una herramienta para la implementación de estrategias en beneficio de los pacientes. MATERIAL Y MÉTODOS: Estudio observacional realizado con la población de pacientes del servicio de consulta externa de ortopedia de un hospital de segundo nivel de atención de Enero a Diciembre del año 2017. Se incluyeron pacientes mayores de 18 años que acudieron a consulta por primera vez. RESULTADOS: De 11,704 consultas otorgadas en el período, 7,862 (67.17%) fueron mujeres y 3,842 (32.82%) hombres. La edad promedio de los pacientes fue de 51.84 ± 0.14. La causa más frecuente de consulta fueron las artropatías (47.65%). Durante el otoño se otorgó el mayor número de consultas (32.33%). CONCLUSIONES: Las artropatías, específicamente la gonartrosis, fue el principal motivo de consulta externa, representando casi la mitad de las consultas otorgadas. Es transcendental identificar los factores de riesgo modificables de estas patologías con el objetivo de disminuir el impacto negativo que genera a nivel funcional, económico y de calidad de vida. Importancia clínica: La realización de más estudios epidemiológicos sobre las patologías ortopédicas permitirá mejorar las estrategias preventivas y optimizar los recursos para mejorar la atención de los pacientes.

Genetic associations of LYN with systemic lupus erythematosus.

We targeted LYN, a src-tyosine kinase involved in B-cell activation, in case-control association studies using populations of European-American, African-American and Korean subjects. Our combined European-derived population, consisting of 2463 independent cases and 3131 unrelated controls, shows significant association with rs6983130 in a female-only analysis with 2254 cases and 2228 controls (P=1.1 x 10(-4), odds ratio (OR)=0.81 (95% confidence interval: 0.73-0.90)). This single nucleotide polymorphism (SNP) is located in the 5' untranslated region within the first intron near the transcription initiation site of LYN. In addition, SNPs upstream of the first exon also show weak and sporadic association in subsets of the total European-American population. Multivariate logistic regression analysis implicates rs6983130 as a protective factor for systemic lupus erythematosus (SLE) susceptibility when anti-dsDNA, anti-chromatin, anti-52 kDa Ro or anti-Sm autoantibody status were used as covariates. Subset analysis of the European-American female cases by American College of Rheumatology classification criteria shows a reduction in the risk of hematological disorder with rs6983130 compared with cases without hematological disorders (P=1.5 x 10(-3), OR=0.75 (95% CI: 0.62-0.89)). None of the 90 SNPs tested show significant association with SLE in the African American or Korean populations. These results support an association of LYN with European-derived individuals with SLE, especially within autoantibody or clinical subsets.

Replication of the BANK1 genetic association with systemic lupus erythematosus in a European-derived population.

Systemic lupus erythematosus (SLE) is an autoimmune disease with highly variable clinical presentation. Patients suffer from immunological abnormalities that target T-cell, B-cell and accessory cell functions. B cells are hyperactive in SLE patients. An adapter protein expressed in B cells called BANK1 (B-cell scaffold protein with ankyrin repeats) was reported in a previous study to be associated with SLE in a European population. The objective of this study was to assess the BANK1 genotype-phenotype association in an independent replication sample. We genotyped 38 single nucleotide polymorphisms (SNPs) in BANK1 on 1892 European-derived SLE patients and 2652 European-derived controls. The strongest associations with SLE and BANK1 were at rs17266594 (corrected P-value=1.97 x 10(-5), odds ratio (OR)=1.22, 95% CI 1.12-1.34) and rs10516487 (corrected P-value=2.59 x 10(-5), OR=1.22, 95% CI 1.11-1.34). Our findings suggest that the association is explained by these two SNPs, confirming previous reports that these polymorphisms contribute to the risk of developing lupus. Analysis of patient subsets enriched for hematological, immunological and renal ACR criteria or the levels of autoantibodies, such as anti-RNP A and anti-SmRNP, uncovers additional BANK1 associations. Our results suggest that BANK1 polymorphisms alter immune system development and function to increase the risk for developing lupus.

[Efficacy of sugammadex in the reversal of neuromuscular blockade induced by rocuronium in long-duration surgery: under inhaled vs. intravenous anesthesia]. / Eficacia de la reversión con sugammadex del bloqueo neuromuscular inducido por rocuronio en cirugía de larga duración. Comparación del efecto de la anestesia inhalatoria frente a intravenosa.

BACKGROUND AND OBJECTIVE: Sugammadex reverses neuromuscular blockade induced by aminosteroid agents by encapsulating these agents. The objective of this study was to compare the efficacy and safety of sugammadex to reverse a rocuronium-induced neuromuscular blockade in long-duration surgery in association with inhaled or intravenous anesthesia. PATIENTS AND METHODS: We performed a randomized, double-blind, multicenter trial of 20 ASA 1-3 patients aged between 18 and 69 years and scheduled for elective surgery lasting at least 120 minutes. Anesthesia was induced with remifentanil and rocuronium at a dosage of 0.6 mg x kg(-1), and neuromuscular function was monitored by means of acceleromyography. After randomization, anesthesia was maintained with sevoflurane or with propofol for total intravenous anesthesia. Patients in both groups also received an infusion of remifentanil for analgesia and rocuronium to maintain a block of greater than 90%. After surgery, sugammadex was administered at a dosage of 2 mg x kg(-1) on reappearance of the second train-of-four (TOF) twitch (T2) and the times until recovery of T4/T1 ratios of 0.7, 0.8, and 0.9 (main endpoints). Mean arterial pressure and heart rate were recorded at baseline and after 2, 5, 10, and 30 minutes (secondary outcome measures). RESULTS: Although less rocuronium was consumed in the sevoflurane group than in the propofol group and the time between the start of sugammadex administration until recovery of a TOF ratio of 0.9 was shorter for the sevoflurane group than for propofol group (mean [SD], 1.46 [0.30] minutes and 1.89 [0.62] minutes, respectively), these differences were not significant. No signs of recurarization or associated adverse effects were observed. CONCLUSIONS: Sugammadex effectively and safely reverses a rocuronium-induced neuromuscular blockade in less than 2 minutes in long-duration surgery performed under both inhaled and intravenous anesthesia. The interaction of neuromuscular blocking agents with sevoflurane appears not to affect the reversal time of sugammadex in such operations.