Variant characterisation and clinical profile in a large cohort of patients with Ellis-van Creveld syndrome and a family with Weyers acrofacial dysostosis.

BACKGROUND: Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2. Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum. METHODS: We conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data. The deleterious effect of selected variants of uncertain significance was evaluated by cellular assays. MAIN RESULTS: We identified pathogenic variants in EVC/EVC2 in affected individuals from 41 of the 43 families with EvC. Patients from each of the two remaining families were found with a homozygous splicing variant in WDR35 and a de novo heterozygous frameshift variant in GLI3, respectively. The phenotype of these patients showed a remarkable overlap with EvC. A novel EVC2 C-terminal truncating variant was identified in the family with WAD. Deep phenotyping of the cohort recapitulated 'classical EvC findings' in the literature and highlighted findings previously undescribed or rarely described as part of EvC. CONCLUSIONS: This study presents the largest cohort of living patients with EvC to date, contributing to better understanding of the full clinical spectrum of EvC. We also provide comprehensive information on the EVC/EVC2 mutational landscape and add GLI3 to the list of genes associated with EvC-like phenotypes.

Utility of Enteral Contrast Protocols in Pediatric Adhesive Small Bowel Obstruction: A Prospective Multicenter Observational Study.

OBJECTIVE: Our objective was to determine the utility of enteral contrast-based protocols in the diagnosis and management of adhesive small bowel obstruction (ASBO) for children. BACKGROUND: Enteral contrast-based protocols for adults with ASBO are associated with decreased need for surgery and shorter hospitalization. Pediatric-specific data are limited. METHODS: We conducted a prospective observational study between October 2020 and December 2022 at nine children's hospitals who are members of the Western Pediatric Surgery Research Consortium. Inclusion criteria were children aged 1-20 years diagnosed with ASBO who underwent a trial of nonoperative management (NOM) at hospital admission. Comparisons were made between those children who received an enteral contrast challenge and those who did not. The primary outcome was need for surgery. RESULTS: We enrolled 136 children (71% male; median age: 12 y); 84 (62%) received an enteral contrast challenge. There was no difference in rate of operative intervention between the no contrast (34.6%) and contrast groups (36.9%; P=0.93). Eighty-seven (64%) were successfully managed nonoperatively with no difference in median length of stay (P=0.10) or rate of unplanned readmission (P=0.14). Among the 49 children who required an operation, there was no significant difference in time from admission to surgery or rate of small bowel resection based on prior contrast administration. CONCLUSIONS: The addition of enteral contrast-based protocols for management of pediatric ASBO does not decrease the likelihood of surgery or shorten hospitalization. Larger randomized studies may be needed to further define the role of radiologic contrast in the management of ASBO in children.

Sex differences in the effectiveness and tolerability of dolutegravir plus rilpivirine as a switch strategy in people living with HIV.

INTRODUCTION: Dolutegravir + rilpivirine (DTG + RPV) is an effective antiretroviral therapy regimen approved in clinical guidelines as a switch therapy for virologically suppressed people with HIV. Our study aimed to compare the effectiveness and tolerability of DTG + RPV in women and men in real-world clinical practice. METHODS: This was a retrospective analysis of treatment-experienced people with HIV from a large HIV unit who switched to DTG + RPV. We analysed treatment effectiveness, rates of adverse events and discontinuation, and metabolic changes after 48 weeks of treatment. HIV-RNA levels <50 copies/mL were analysed at 48 weeks using both intention-to treat analysis (where missing data were interpreted as failures) and per-protocol analysis (excluding those with missing data or changes due to reasons other than virological failure). Outcomes were compared between women and men based on sex at birth. RESULTS: A total of 307 patients were selected (71 women and 236 men). No transgender people were included. At baseline, women had lived with HIV infection and received antiretroviral therapy for longer than men (23.2 vs 17.4 years and 18.9 vs 14.2 years, respectively). In the intention-to-treat analysis, 74.6% (95% confidence interval [CI] 63.4-83.3%) of women and 83.5% (95% CI 78.2-87.7) of men had HIV-RNA <50 copies/mL. In the per-protocol analysis, 96.4% (95% CI 87.7-99) of women and 99% (95% CI 98.9-99.7) of men had HIV-RNA levels <50 copies/mL. Two women and two men had HIV-RNA >50 copies/mL at 48 weeks. Discontinuation due to adverse events was more frequent in women than in men: 12.7% vs 7.2% (p < 0.02). Neuropsychiatric and gastrointestinal events were the most frequently reported. A median (interquartile range) weight gain of 1.9 kg (0-4.2) in women and 1.2 kg (-1-3.1) in men was reported (median of differences between baseline visit and week 48); the remaining changes in metabolic parameters were neutral. CONCLUSIONS: DTG + RPV exhibited good and similar virological effectiveness in women and men in real-world settings. However, poorer tolerability and more treatment interruptions were observed in women.

High long-term failure rates after arthroscopic Bankart repair in younger patients with recurrent shoulder dislocations: A plea for early treatment.

PURPOSE: To determine arthroscopic Bankart repair outcomes and recurrence risk factors at a minimum 5-year follow-up. METHODS: Retrospective assessment of prospectively collected data, single-cohort study of patients who underwent arthroscopic Bankart repair with a minimum 5-year follow-up. Demographical and preoperative instability features were collected. Primary outcome was recurrent instability set as dislocation or subluxation. Secondary outcomes were revision surgery, postoperative instability degree according to Manta criteria, objective and subjective clinical and functional status, assessed by the Rowe, Western Ontario Shoulder Index (WOSI) and Subjective Shoulder Value (SSV) scores. Return to sport and postoperative sports activity at the final follow-up were also recorded. RESULTS: One-hundred and seventy-two patients, 82% men, average age at surgery 29.5 ± 9.2 years, were included. At a mean follow-up of 8.3 ± 2.6 years, recurrent instability occurred in 53 of 172 patients (30.8%). Revision surgery was required in 23/53 (43.4%) of shoulder with recurrent instability. Recurrence occurred within the first 2 years postoperative in 49% of the shoulders, whereas 51% of recurrences occurred after this period. Recurrence took place after a traumatic event in 25% and 56%, respectively. Recurrence rates were higher in patients who underwent surgery after two or more dislocations (p = 0.029). Patients younger at the time of first dislocation, younger at surgery and those with a higher preoperative degree of instability also showed significantly higher rates of recurrence (p = 0.04, p = 0.02, p = 0.03). Postoperative ROWE, WOSI and SSV scores were significantly worse in patients with recurrent instability (p < 0.001). Return-to-sports rate was also lower in patients with postoperative recurrence (p < 0.001). CONCLUSION: The arthroscopic Bankart repair was associated with a high long-term recurrence rate, and its effectiveness decreased over time. The lowest recurrence rates in arthroscopic Bankart repair were achieved in older patients with only one prior instability episode and a lower instability degree. LEVEL OF EVIDENCE: Level IV.

Subacromial balloon spacer improves isokinetic performance in patients with massive irreparable rotator cuff tear.

PURPOSE: The aim of this study was to analyse clinical, functional and shoulder kinematics results using subacromial balloon spacer in nonreparable massive rotator cuff tears. Subacromial balloon spacer was hypothesised to improve shoulder kinematics and increases clinical and functional outcomes scores in nonreparable massive rotator cuff tears. METHODS: This is a prospective study in massive rotator cuff tears. From October 2021 to October 2022, a total of 127 shoulders suffering massive rotator cuff tears were initially evaluated. All patients were evaluated preoperatively, at 6 and 12 months. Patients' patient-reported outcome measures (PROM) subjective values using visual analogue scale (VAS) and the Spanish Western Ontario Rotator Cuff Index (WORC) version were analysed. We also evaluated objective outcomes: constant score, range of movement and kinematic shoulder analysis (isokinetic test to evaluate internal and external rotation forces). Statistical analysis was conducted using SPSS software; continuous variables were presented as means and standard deviations (SDs). RESULTS: Seventeen nonrepairable massive rotator cuff tears were finally included. Three patients required reverse shoulder arthroplasty before 6 months postoperative. After 1-year follow-up, objective and subjective (PROM) outcome scores and isokinetic measurements improved in 13 patients. Preoperative VAS improved from 6.5 ± 2.1 to 2 ± 1.9 points on average at 1-year follow-up and WORC index from 1603 ± 217.3 to 699 ± 361.6. Constant score from 42.1 ± 13.1 on average and at 1-year follow-up increased to 60.8 ± 14.7. Range of movement also improved in elevation 122.2 ± 39.3 to 166.9 ± 25.8, abduction 120.3 ± 38.6 to 134.6 ± 21.1, external rotation 30.3 ± 19.7 to 86.1 ± 13.8 and internal rotation L4-T12 on average at 1-year follow-up. Isokinetic evaluation showed functional improvement 1 year after implantation. Both internal and external rotation improved compared with their healthy shoulder. External rotation improved from 30.3° ± 19.7° preoperatively to 86.1° ± 13.8° (43.7% in the isokinetic study) and internal rotation from L4 preoperatively to L1 (49.8% in isokinetic study) on average. CONCLUSION: Among the different alternatives for irreparable rotator cuff injuries surgical treatment, subacromial balloon spacer is an effective alternative in selected patients, both in terms of clinical-functional improvement and short-term isokinetic results. LEVEL OF EVIDENCE: Level II.

Management of the failed Latarjet procedure.

BACKGROUND: To analyze the causes of failure after a Latarjet procedure and to evaluate the results of revision surgery. METHODS: Single-cohort, retrospective, observational study. Fifteen patients (13 males, mean age at revision failed Latarjet 38.9 years [range, 20-57]) with anterior glenohumeral instability who underwent a revision surgery for a failed Latarjet procedure were reviewed. Failure was defined as subluxation or dislocation. Demographic features, the reason for failure, type of lesions observed, and postoperative clinical and functional status were recorded. Functional status was assessed with the Rowe score. Subjective clinical evaluation was performed using the Western Ontario Shoulder Instability Index (WOSI) and Subjective Shoulder Value (SSV). RESULTS: Recurrence occurred in the first year following the Latarjet procedure in 11 patients (73.3%). The causes of failure were graft avulsion in 3 cases, fracture in 1, coracoid misposition in 2 cases, graft nonunion in 1, advanced osteolysis in 4 cases, and persistence of an off-track Hill-Sachs lesion in 1. In 3 cases, no identifiable cause of failure but generalized severe hyperlaxity was found. Regarding revision surgery after the Latarjet procedure, 8 patients underwent an arthroscopic Eden-Hybinette procedure and in 3 patients the graft was repositioned. In the remaining 4 patients, an extra-articular capsular reinforcement was performed. Regarding the latter, 1 patient suffered new dislocations and required an additional revision surgery consisting of an Eden-Hybinette procedure. All patients remained stable after the revision surgery at the latest follow-up, except 2 who reported subluxations after an arthroscopic Eden-Hybinette and an extra-articular capsular reinforcement, but no additional surgical procedure was required. Functional status after revision surgery was satisfactory, with a mean Rowe score of 78 (10-100), WOSI score of 829 (225-1425), and an SSV score of 67 points (40-90). CONCLUSION: The causes of failure after a Latarjet procedure were poor bone graft due to mispositioning, avulsion, fracture or resorption, generalized hyperlaxity, and incomplete restoration of the glenoid track. Our study demonstrates that when the cause of failure is identified and addressed, stability is restored, and clinical and functional scores improved.

Linking nursing students' professional identity, clinical learning environment, financial incentives, and career opportunities with migration intent: Structural equation modeling.

AIMS: To investigate how nursing students' professional identity, clinical learning environment, financial incentives, and career opportunities influence their intention to migrate. BACKGROUND: There is a preponderance of studies about nurse migration and its impact on the global nursing workforce. However, a critical gap remains about nursing students' intentions to migrate, particularly among developing countries like the Philippines. METHODS: Using a cross-sectional design, third- and fourth-year nursing students (n = 316) from the largest comprehensive university in Manila were conveniently recruited. Data were collected from November to December 2023 using five validated self-report scales. Descriptive (e.g., mean, standard deviation) and inferential statistics (e.g., Spearman rho, covariance-based structural equation modeling) were used to analyze data. RESULTS: The emerging model demonstrated acceptable model fit indices. Nursing students' professional identity (ß = 0.18, p = 0.043) and financial incentives (ß = 0.10, p = 0.046) significantly and positively influence the intention to migrate. The satisfaction with future career opportunities (ß = -0.12, p = 0.038) and clinical learning environment perception (ß = -0.15, p = 0.048) negatively influence the intention to migrate. These four predictors accounted for 4.60% of the total variance of intention to migrate. CONCLUSION: Nursing students' professional identity and financial incentives directly impact intent to migrate, whereas future career opportunities satisfaction and clinical learning environment inversely affect intent to migrate. IMPLICATIONS FOR NURSING PRACTICE AND POLICY: This study underscores the imperative for nursing colleges and faculty to promote positive professional identity and provide a conducive clinical learning environment to develop sustainable nurses' migration policies.

Outcomes of Arthroscopic Latarjet as a Revision Surgery After Failed Arthroscopic Bankart Repair.

BACKGROUND: The role of arthroscopic Latarjet as a revision surgery after failed arthroscopic Bankart repair has yet to be established. PURPOSE: To compare clinical outcomes, recurrences, and complication rates of arthroscopic Latarjet as a revision procedure after failed arthroscopic Bankart repair versus arthroscopic Latarjet as a primary procedure. DESIGN: Cohort study; Level of evidence, 3. METHODS: This is a retrospective study of prospectively collected data of patients who were diagnosed with anterior shoulder instability and underwent arthroscopic Latarjet stabilization between 2009 and 2018. Patients were separated into 2 groups depending on whether Latarjet was performed after a previous instability surgery (revision) or as a primary surgery (primary). Rowe score, Western Ontario Shoulder Instability Index (WOSI), Constant-Murley Shoulder Outcome (CMSO) score, and Single Assessment Numeric Evaluation (SANE) were assessed pre- and postoperatively with a minimum 24 months of follow-up. In addition, pre- and postoperative levels of sports activity, dislocations, subluxations, and complications were assessed. RESULTS: A total of 97 patients (n = 62 revision; n = 35 primary), with a mean age of 31.0 ± 8.8 and 29.4 ± 7.6 years old in the revision and primary Latajet group, respectively, met the inclusion criteria. The mean follow-up in the revision group was 32 months (24-53) and 35.5 months (27.7-42.2) in the primary Latarjet group. No significant differences between groups were observed in Rowe score (revision = 91.4, primary = 94.1; P = .223), CMSO score (revision = 90.7, primary = 94; P = .105), and SANE (revision = 85.8, primary = 87.3; P = .683) postoperatively. However, the postoperative difference in the WOSI score between the revision and primary Latarjet groups was nearly significant (510 ± 334 vs 403 ± 343, respectively; P = .05). Four (6.4%) postoperative dislocations were reported in the revision and 1 (2.8%) in the primary Latarjet group (P = .14). Patients in the revision group had a lower return to the previous level of sports participation (P = .008) and decreased external rotation with the arm by the side compared with the primary Latarjet group (P = .000). CONCLUSION: Arthroscopic Latarjet as a revision surgery is a reasonable surgical option in failed Bankart repair cases. The decision to perform arthroscopic Latarjet stabilization as a revision surgery should not be influenced by the potential risk of future complications as it provides comparable clinical outcomes to the primary Latarjet procedure with a low postoperative recurrence rate. However, a decreased level of postoperative sports participation and external rotation with the arm by the side can be expected.

Feasibility and Application of Local Closed-Loop Materials to Produce Compressed and Stabilized Earth Blocks.

The validation of a feasible application for the production of sustainable bricks with local materials in humid and hot climates, which would allow the current housing needs of a constantly growing population with scarce economic resources to be met while also reducing energy inputs for climate control, is a current challenge without a definitive solution. Therefore, this research studied the incorporation of local aggregates and two second-generation materials to produce lime-stabilized Compressed Earth Blocks (CSEBs) using a semi-automatic machine for their manufacture. An initial matrix was designed as a baseline, and three more were developed with variations to incorporate second-generation materials individually and as mixtures. The stabilizer was added in concentrations of 5, 10, and 15%, resulting in a total of 12 batches of CSEBs. Eleven of the studied batches exceed the normative limits for simple compressive strength and initial water absorption coefficient. The best result of simple compressive strength was obtained in two batches of the same matrix that used construction demolition waste (CDW), reaching 4.3 MPa (43% above the minimum limit established by the most restrictive regulations and 115% above the least restrictive). It was possible to produce sustainable bricks in situ with average ambient temperatures of 32 °C and relative humidity of 91%.

High prevalence of syndromic hearing loss in Mexican children undergoing cochlear implantation.

Objective: Studies evaluating genetic sensorineural hearing loss (SNHL) in Hispanic and Latino populations using genomic technologies are lacking. Recent data has shown that Hispanic and Latino children display lower genetic diagnostic rates despite similar prevalence rates of SNHL to their Asian and White counterparts, thus negatively affecting their clinical care. Our objective was to determine the genetic contribution to SNHL in a population of Mexican children undergoing evaluation for cochlear implantation. Methods: Pediatric patients from Mexico with severe to profound SNHL undergoing evaluation for cochlear implantation were recruited. Exome sequencing (ES) or hearing loss gene panel testing was performed. Variant pathogenicity was established in accordance to criteria established by the American College of Medical Genetics, and variants of interest were clinically confirmed via CLIA certified laboratory. Results: Genetic evaluation was completed for 30 Mexican children with severe to profound SNHL. A genetic cause was identified for 47% (14) of probands, and 7% (2) probands had an inconclusive result. Of the diagnoses, 10 (71%) were syndromic or likely syndromic, and 4 (29%) were nonsyndromic. Eight probands (80% of all syndromic diagnoses) were diagnosed with a syndromic form of hearing loss that mimics a nonsyndromic clinical presentation at a young age and so could not be suspected based on clinical evaluation alone without genetic testing. Conclusion: This is the largest study to date to use comprehensive genomic testing for the evaluation of Mexican children with severe to profound SNHL. A significant proportion of children in this cohort were diagnosed with syndromic hearing loss. Future study in a larger cohort of Mexican children with varying degrees of hearing loss is required to improve the efficacy of genetic testing and timely medical intervention within these ethnically diverse populations. Level of evidence: Level 4 (cohort study).

The multiple facets of the club cell in the pulmonary epithelium.

The non-ciliated bronchiolar cell, also referred to as "club cell", serves as a significant multifunctional component of the airway epithelium. While the club cell is a prominent epithelial type found in rodents, it is restricted to the bronchioles in humans. Despite these differences, the club cell's importance remains undisputed in both species due to its multifunctionality as a regulatory cell in lung inflammation and a stem cell in lung epithelial regeneration. The objective of this review is to examine different aspects of club cell morphology and physiology in the lung epithelium, under both normal and pathological conditions, to provide a comprehensive understanding of its importance in the respiratory system.

The role of arthroscopy in the management of adult elbow trauma.

Fractures around the elbow are often challenging to treat and in most cases require an extensive approach. Since the development of elbow arthroscopy, most authors have pointed out the potential advantages of a less invasive technique that can be useful for visualization and reduction of the articular fragments with an eventual percutaneous fixation. Arthroscopic techniques provide a limited exposure that may lead to a faster wound healing, lower rate of complications and thus, better recovery of range of motion. However, elbow arthroscopy is also a demanding technique, especially in a swollen and fractured joint, and it is not exempt of risks. The overall rate of complications has been rated from 1.5% to 11% and nerve injury rates from 1.26-7.5%.The objective of this review is to present the arthroscopic setup and general surgical technique for the management of elbow trauma and to define some clear indications. Patient positioning and operating room display is key in order to obtain success. In addition to the arthroscopic equipment, fluoroscopy is almost always necessary for percutaneous fixation and precise preparation is mandatory. In the last decade, literature regarding new portals or surgical tips for arthroscopic treatment of elbow fractures have been published.The main indications for fracture arthroscopic-assisted fixation are those articular fractures involving the coronoid, distal humerus shear fractures in the coronal plane (trochlear and capitellum fractures) and, more controversially, those affecting the radial head. The treatment of these type of fractures all arthroscopically is exponentially demanding as it might also require ligament repair. For coronoid fractures, it can be useful in Morrey type II and III, and O´Driscoll anteromedial facet fractures associated to a posteromedial instability pattern that also require a repair of the LCL. Although excellent results have been published, comparative series are scarce. Radial head fractures can also be approached arthroscopically in simple non-comminute fractures that can be fixed percutaneously.In conclusion, arthroscopy of the elbow is an excellent tool to better understand and visualize articular fractures of the elbow. However, despite the advances in surgical technique, whether it improves clinical and radiological results is still to be proven.

Terapia oromotora: Estudio de un modelo educativo para cuidadores primarios / Oral-motor therapy: Study of a distance learning educational model for primary caregivers / Terapia motora oral: estudo de um modelo de ensino à distância para cuidadores primários

Los trastornos alimentarios y de deglución afectan considerablemente la calidad de vida de niños y niñas con discapacidades neuromotoras. La pandemia de COVID-19 agravó estos desafíos al limitar el acceso a la atención en salud. Este estudio evaluó un modelo educativo de aprendizaje a distancia en terapia oral-motora, dirigido a personas cuidadoras de niños y niñas con discapacidades neuromotoras en Mérida, México. Participaron incialmente treinta personas cuidadoras de niños y niñas entre 2 y 12 años de edad con trastornos alimentarios y de deglución, quienes recibían atención en siete instituciones. 23 participantes completaron el programa. Se usó un diseño cuasiexperimental de prueba pre y post. El programa incluyó sesiones teóricas y prácticas. Los resultados mostraron mejoras significativas en el conocimiento teórico y en las competencias prácticas, con niveles de competencia superiores al 80%. Aun así, se reconocen limitaciones del estudio como el tamaño de la muestra y la ausencia de un grupo de control. Abordar estas limitaciones en investigaciones futuras fortalecerá la evidencia sobre la efectividad de este enfoque innovador centrado en la persona cuidadora, crucial para gestionar trastornos alimentarios y de deglución de manera efectiva y mejorar la calidad de vida de niños y niñas con discapacidades neuromotoras.

Eating and swallowing disorders are prevalent among children with neuromotor disabilities, significantly impacting their overall quality of life. The COVID-19 pandemic exacerbated the challenges by restricting access to health care, underscoring the necessity for innovative solutions with caregiver involvement. This study investigated the effectiveness of a distance learning educational model in oral-motor therapy for primary caregivers of children with neuromotor impairments in Mérida, Mexico. The quasiexperimental pretest-posttest design included thirty primary caregivers of children aged 2 to 12 with feeding and swallowing disorders from seven institutions. Twenty-three participants completed the program. The program encompassed theoretical sessions on various aspects of oral motor therapy and practical sessions focusing on hands on training. Results revealed substantial enhancements in theoretical knowledge and practical competencies among caregivers, with competence levels exceeding 80% in all evaluated activities. Despite these positive outcomes, the study acknowledges limitations such as a small sample size and the absence of a control group. Addressing these constraints through future research endeavors will bolster the evidence supporting the effectiveness of this innovative caregivercentric approach. Ultimately, integrating caregivers into the care team is imperative for improving the quality of life for children with neuromotor disabilities and effectively managing eating and swallowing disorders.

Os distúrbios da alimentação e da deglutição afetam significativamente a qualidade de vida das crianças com deficiências neuromotoras. A pandemia da COVID-19 exacerbou esses desafios desafios, sendo que limitou o acesso ao atendimento. Este estudo avaliou um modelo educacional de ensino à distância sobre terapia oral-motora, orientado a cuidadores primários de crianças com deficiências neuromotoras em Mérida, México. Trinta cuida- dores de crianças de 2 a 12 anos de idade com distúrbios de alimentação e deglutição de sete instituições participaram, sendo que 23 deles concluíram o programa. Um estudo quase experimental de préteste-pós-teste foi realizado. O programa incluiu sessões teóricas e práticas. Os resultados mostraram melhorias significativas no conhecimento teórico e nas competências práticas, com níveis de competência acima de 80%. Contudo, são reconhecidas algumas limitações do estudo, como o pequeno tamanho da amostra e a falta de um grupo de controle. A abordagem dessas limitações em pesquisas futuras fortalecerá as evidências respeito da eficácia dessa abordagem inovadora centrada no cuidador, crucial para melhorar a qualidade de vida das crianças com deficiências neuromotoras e gerenciar os distúrbios de alimentação e deglutição de forma eficaz.

La importancia de evaluar el daño al DNA / The Importance of Assessing DNA Damage

Resumen Se calcula que el cuerpo humano está conformado por billones de células, las cuales sufren cientos de miles de lesiones al día en su DNA. Aunque el DNA no es la única biomolécula que sufre daños, su importancia radica en que es la única que no puede ser sustituida por la célula, así que, cuando esta sufre daños, la célula debe repararlos, tolerarlos o, en el caso extremo, activar las vías que la llevarán a la muerte, ya que lo importante es mantener la integridad celular y la homeostasis del organismo. Hay miles de agentes que pueden dañar al DNA, algunos los produce la misma célula y se les denomina 'agentes endógenos', mientras que otros son agentes externos y se les conoce como 'agentes exógenos'. La célula no puede evitar el daño causado por los agentes endógenos, ya que son productos de la actividad metabólica, por ejemplo; así que, cuando suceden se activan de forma inmediata los mecanismos celulares para mitigarlos. Lo mismo pasa con los daños causados por agentes exógenos, ya que la célula hará todo lo posible por disminuir los efectos adversos que pueden causar. El problema se pone de manifiesto cuando la célula no puede reparar los daños o los repara mal o son tantos que los mecanismos de reparación se ven rebasados, es entonces cuando el daño permanece en el DNA y se genera un estado de inestabilidad cromosómica que puede conducir a la célula a la disfunción y a la malignización. Este estado de inestabilidad cromosómica se puede ver reflejado en el aumento de rompimientos de DNA o de micronúcleos en las células expuestas, lo que se puede cuantificar por medio de métodos especiales como el 'Ensayo Cometa' y el 'Ensayo de Micronúcleos', ya que identificar el daño en el DNA es una forma de evaluar el potencial tóxico que tienen los agentes a los que están expuestas las poblaciones, permite conocer los mecanismos de acción que tienen y, además, ayuda a comprender los factores que influyen en el detrimento de la salud poblacional.

Abstract It is estimated that the human body is made of trillions of cells, which suffer hundreds of thousands of DNA lesions every day. Although DNA is not the only biomolecule that suffers damage, its importance lies in the fact that it is the only biomolecule that cannot be replaced by the cell, so when it suffers damage, the cell must repair it, tolerate or, in a extreme case, activate pathways that will lead to death, since the objective is to maintain cell integrity and the homeostasis of the organism.There are thousands of agents that can damage DNA, some are produced by the cell and are called 'endogenous, while others are external agents and are known as 'exogenous. The cell cannot avoid the damage caused by endogenous agents, since they are products of its metabolic activity, for example, so when they occur, cellular mechanisms are immediately activated to mitigate them. The same happens with the damage caused by exogenous agents, since the cell will do everything possible to diminish the adverse effects they can cause. The problem becomes apparent when the cell is unable to repair the damage or poorly repairs it, or repairs so much that the mechanisms are overwhelmed, when the damage remains in the DNA and a state of chromosomal instability is generated that can lead the cell to dysfunction and malignization. This state of chromosomal instability can be reflected in increased DNA breaks or micronuclei in exposed cells, which can be quantified by special methods such as the 'Comet Assay' and the 'Micronucleus Assay'. Since identifying DNA damage is a way of evaluating the toxic potential of the agents to which populations are exposed, it allows us to know their mechanisms of action and helps to understand the factors that influence the detriment in population's health.

¡Ey parce! Estoy buscando camello: Cómo las redes de los contactos sociales definen la situación laboral de jóvenes en sectores populares y marginados de Cali

La búsqueda de empleo usando los contactos sociales a pesar de ser una práctica común, en ocasiones no genera los resultados esperados. Con el objetivo de comprobar lo anterior; en este documento se configuran las redes de contactos sociales de un grupo de jóvenes que viven en contextos de marginalidad y violencia de las comunas 1, 14, 16, 18 y 20 de Cali que participaron en el programa denominado Tratamiento Integral a Pandillas - Jóvenes Sin Fronteras (TIP-JSF), un proceso de intervención psicosocial desde una perspectiva integral que promovía la inclusión social. Las redes de contactos sociales halladas a través de una encuesta se caracterizan por ser pequeñas y cerradas, aumentando la probabilidad de que quienes las conforman, presenten el mismo estado laboral: desempleo o informalidad laboral. Es clave, entonces, que las/os jóvenes amplíen sus contactos para que los vinculen con otros que les puedan brindar información de mejores vacantes laborales.

The search for employment using social contacts, despite being a common practice, sometimes does not generate the expected results. In order to verify the above, this paper describes the social contact networks of a group of young people living in contexts of marginality and violence in Cali's communes 1, 14, 16, 18 and 20 who participated in the program called Integral Treatment for Gangs - Youth Without Borders (TIP-JSF), a process of psychosocial intervention from an integral perspective that promoted social inclusion. The social networks found through a survey are characterized by being small and closed, increasing the likelihood that those who make up these networks have the same employment status: unemployment or informal employment. It is essential for young people to expand their contacts and link them with other contacts that can provide them with information on better job vacancies.

A busca de emprego usando contatos sociais, apesar de ser uma prática comum, às vezes não gera os resultados esperados. Para verificar isso, este artigo descreve as redes de contatos sociais de um grupo de jovens que vivem em contextos de marginalidade e violência nas comunas 1, 14, 16, 18 e 20 de Cali e que participaram do programa chamado Tratamento Integral para Gangues - Jovens Sem Fronteiras (TIP-JSF), um processo de intervenção psicossocial de uma perspectiva holística que promoveu a inclusão social. As redes sociais encontradas por meio de uma pesquisa são caracterizadas por serem pequenas e fechadas, aumentando a probabilidade de que aqueles que as formam tenham a mesma situação de emprego: desemprego ou emprego informal. É fundamental, portanto, que os jovens ampliem seus contatos para conectá-los a outras pessoas que possam lhes fornecer informações sobre melhores vagas de emprego.

El endotelio sano y su disfunción en el riesgo cardiovascular / Healthy Endothelium and its Dysfunction in Cardiovascular Risk

Resumen El endotelio es una monocapa formada por células aplanadas llamadas w, que revisten la parte más interna del corazón, los vasos sanguíneos y los linfáticos. Es considerado un órgano que tiene una función de barrera, pero además se encarga de regular la permeabilidad y tono vascular, hemostasia, inflamación y angiogénesis. Esta revisión se centra sobre todo en las generalidades del endotelio vascular sano y su disfunción. Se analizan los conceptos de activación y disfunción, en donde la activación se considera como un proceso autolimitado, indispensable para la hemostasia y la inflamación. La disfunción endotelial, en cambio, es un proceso patológico, de mayor duración y que se presenta cuando el endotelio ya no puede autorregularse y cambia a un fenotipo proinflamatorio y protrombótico permanente. Esta disfunción es el primer cambio que lleva a la ateroesclerosis y al aumento del riesgo cardiovascular, por esta razón se revisan los principales biomarcadores de disfunción endotelial y riesgo cardiovascular. A medida que se avance en el conocimiento básico del endotelio y su disfunción, será posible diseñar nuevas medidas preventivas o terapéuticas que puedan disminuir dicho riesgo.

Abstract The endothelium is a monolayer of flatten cells named endothelial cells that form the inner layer of the heart, blood, and lymphatic vessels. Its function is not just as a barrier, but it is a regulator of vascular permeability and tone, hemostasis, inflammation, and angiogenesis. This review is about the general aspects of vascular endothelium and endothelial dysfunction that leads to increased vascular risk. Activation and dysfunction are discussed, considering the endothelial activation as a self-limiting process, necessary to promote inflammation and hemostasis. Endothelial dysfunction is a pathological process in which the endothelium loses its ability for self-regulation and acquires a prothrombotic and proinflammation phenotype. Endothelial dysfunction is the initial step for atherosclerosis and increased cardiovascular risk, so the main biomarkers of endothelial dysfunction are reviewed. As basic knowledge about endothelium increases, preventive or therapeutic measures can be designed as treatment or prevention the risk of its dysfunction.

Principles, Scope, and Limitations of the Methodological Triangulation / Principios, alcances y limitaciones de la triangulación metodológica / Princípios, alcances e limitações da triangulação metodológica

Abstract This article sought to collect basic and relevant information about methodological triangulation and make a first approach to the principles underlying its use, potentiality and scope, advances and limitations, and some alternative proposals to surpass them. In that sense, it is an attempt to operationalize concepts and present the procedures to conduct it rigorously. In the first place, conceptual aspects and types of triangulation are presented, and in the second place, the principles, uses and difficulties. But, beyond what must be done, an approach is made to how to do it. The assumption underlying through the article is the complementarity among methods. It is emphasized in the principle through which the nature of objects must guide the selection of the methods and of the most effective techniques to approach and account for phenomena that are socially pertinent of being studied.

Resumen El presente artículo pretende levantar información básica y relevante sobre la triangulación metodológica y hacer una primera aproximación a los principios que subyacen en su uso, su potencialidad y alcance, sus avances y limitaciones, y algunas propuestas alternativas para superarlas. En ese sentido, es un intento de operacionalizar los conceptos y presentar los procedimientos para llevarla a cabo en forma rigurosa. En primer lugar, se presentan los aspectos conceptuales y los tipos de triangulación, y en segundo lugar los principios, los usos y las dificultades. Pero, más allá del qué hacer, se hace una aproximación al cómo hacerlo. El supuesto que subyace a través del artículo es la complementariedad entre los métodos. Se enfatiza en el principio mediante el cual, la naturaleza de los objetos debe guiar la escogencia de los métodos y de las técnicas más eficaces para aproximarse y dar cuenta de los fenómenos que son pertinentes socialmente, de ser estudiados.

Resumo Este artigo tem como objetivo coletar informações básicas e relevantes sobre triangulação metodológica e fazer uma primeira aproximação aos princípios que fundamentam sua utilização, seu potencial e alcance, sua avanços e limitações, e algumas propostas alternativas para superá-los. Nesse sentido, é uma tentativa de operacionalizar os conceitos e apresentar os procedimentos para realizá-lo com rigor. Em primeiro lugar, são apresentados os aspectos conceituais e os tipos de triangulação e, em segundo lugar, os princípios, usos e dificuldades. Mas, além do que fazer, é feita uma abordagem de como fazer. A hipótese subjacente ao longo do artigo é a complementaridade entre os métodos. A ênfase é colocada no princípio pelo qual a natureza dos objetos deve orientar a escolha dos métodos e técnicas mais eficazes para abordar e dar conta dos fenômenos socialmente relevantes, se estudados.

Percepciones de estudiantes de fonoaudiología sobre el aprendizaje basado en simulación y gamificación / Perceptions of phonoaudiology students on simulation-based gamified learning

Introducción: El aprendizaje basado en simulación y gamificación emerge como propuesta pedagógica a las necesidades de los estudiantes contemporáneos, quienes se desarrollan en entornos de avance tecnológico continuo. Más aún, favorecen la adquisición y el desarrollo de razonamientos y habilidades clínicas, lo que mejora la seguridad del paciente. Objetivo: Evaluar la percepción de los estudiantes de cuarto año de Fonoaudiología sobre la propuesta de simulación y gamificación aplicada de Clínica Otoneurológica y Laberintología en la Universidad de Nacional de Córdoba, Argentina. Métodos: Investigación transversal, descriptiva y correlacional. Los participantes (n = 89) completaron tres cuestionarios de valoración: para la actividad de simulación de movimientos oculares, para la actividad de gamificación en clínica audiológica y acerca de aspectos generales de la asignatura. Para el análisis de los datos se utilizó la estadística descriptiva y multivariada. Se estudiaron las asociaciones multivariadas entre los ítems de los cuestionarios, mediante análisis de componentes principales. Resultados: Se obtuvo un alto porcentaje de aceptación de ambas actividades. El análisis multivariado logró explicar un 59 por ciento de la variabilidad, y reveló una asociación positiva entre la simulación y la gamificación. Más aún, estas propuestas pedagógicas se correlacionaron positivamente con los indicadores de aprendizaje significativo, los objetivos del currículo, los métodos de evaluación y los recursos didácticos aplicados. Conclusiones: Estas herramientas generan entornos organizativos y facilitadores del proceso de enseñanza-aprendizaje, especialmente en temas otoneurológicos. Los resultados expanden la aplicabilidad de la simulación y gamificación en la educación universitaria(AU)

Introduction: Simulation-based gamified learning is emerging as a pedagogical proposal to meet the needs of contemporary students, who develop themselves in settings of continuous technological advancement. Moreover, they favor the acquisition and development of clinical reasoning and skills, which improves patient safety. Objective: To evaluate the perception of fourth-year Phonoaudiology students on the simulation and gamification proposal applied in the otoneurology and labyrinthology clinic at the National University of Córdoba, Argentina. Methods: In this cross-sectional, descriptive and correlational research, the participants (n=89) completed three assessment questionnaires: for the eye movement simulation activity, for the gamification activity in audiological clinic, and about general aspects of the subject. Descriptive and multivariate statistics were used for data analysis. The multivariate associations between questionnaire items were studied by means of principal component analysis. Results: A high percentage was obtained regarding acceptance of both activities. Multivariate analysis permitted to explain 59 percent of the variability, and revealed a positive association between simulation and gamification. Moreover, these pedagogical proposals were positively correlated with meaningful learning indicators, the curriculum objectives, the evaluation methods and the didactic resources applied. Conclusions: These tools generate organizational and facilitating settings for the teaching-learning process, especially in otoneurological subjects. The results increase the applicability of simulation and gamification in university education(AU)

Prevalencia de consumo de sustancias psicoactivas y su relación con características sociodemográficas, familiares y de personalidad en estudiantes en formación tecnológica / Prevalence of psychoactive substance use and its relationship with characteristics sociodemographic, family and personality in students in technology training

Resumen. El objetivo del estudio fue determinar la prevalencia del consumo de sustancias psicoactivas y los factores asociados con las caracteristicas sociodemográficas, familiares y de personalidad. El estudio se realizó en un Instituto de formación tecnológica de carácter público Medellin, 2016. La muestra estuvo conformada por 891 estudiantes a quienes se les aplicó los instrumentos ASSIT, APGAR Familiar, NEO-FFI, ERI y un cuestionario de variables sociodemográficas. Los resultados mostraron que la prevalencia de consumo de sustancias psicoactivas fue de 51,6%; con mayor consumo de alcohol (49,7%). La prueba de regresión logistica sugiere que ser hombre (OR= 2,97), con edad entre 18 y 24 años (OR= 2,72), con expresión en estado bajo en las relaciones intrafamiliares (OR= 1,63) y prestar un nivel muy bajo en amabilidad (Or=9,32) se asocia de forma negativa con el consumo de sustancias psicoactivas. Se resalta la importancia de fortalecer aspectos de la personalidad relacionados con la amabilidad (confianza, franqueza, actitud conciliadora, sensibilidad a los demás), además de las relaciones intrafamiliares y aspectos que faciliten prevenir el consumo de sustancias psicoactivas en los estudiantes.

Abstract. The objective of this study was to stablish the prevalence of psychoactive substances consumption among students and to associate this consumption with the socio-demographic, family structures, and personality traits. The study was set on a public technological institute of Medellin, Colombia during 2016. The next tests were applied once to the students: ASSIT, APGAR Family, NEO-FFI, ERI and a test of sociodemographic variables. The primary outcome in this study was the prevalence of consumption of psychoactive substances among students. In order to stablish the association between psychoactive substances and sociodemographic, family structures, and personality traits, a logistic regression model was fit. A total of 891 students participated in this study. The prevalence of psychoactive substances use among students was 51.6%. The logistic regression conducted on the data proved that males, among 18 to 24 years, with intrafamily deficit, and with low kindness were positively associated with greater PAS use (OR = 2.97, 2.72, 1.63, 9.32, respectively). Kindness aspects (e.g., confidence, frankness, counseling, sensitivity to others) and family relationships should be improved in order to prevent psychoactive substances use among students.

Exposing the Hepatotoxicity of Medicinal Plants: A Review of Copalchi Stem Bark (Hintonia latiflora) / Exponiendo la hepatotoxicidad de las plantas medicinales: una revisión de palo amargo (Hintonia latiflora)

Resumen Se estima que el 80% de la población mundial utiliza diversas plantas medicinales para el tratamiento o control de diversas enfermedades, ya sean agudas o crónicas, debido a su accesibilidad y bajo costo, observándose en los últimos años un aumento en el consumo sin una observación médica adecuada. México es considerado como el segundo país más importante del mundo en cuanto al conocimiento de la medicina tradicional, solo después de china. El uso de las plantas medicinales se ha reportado desde tiempos prehispánicos como una opción terapéutica, sin embargo, el único enfoque que se tiene es la parte curativa y no se ha reflexionado en que las plantas poseen metabolitos secundarios (compuestos químicos producidos por las plantas con actividad biológica en los seres vivos) que, además de tener efectos terapéuticos poseen efectos tóxicos en las personas que las consumen, observándose en algunos casos efectos reversibles después de suspender su consumo. El copalchi o palo amargo es una planta medicinal que proviene de la corteza del árbol de Hintonia latiflora (sin. Coutarea latiflora), la cual ha sido utilizada principalmente como tratamiento alternativo para pacientes con diabetes tipo 2, ya que se ha demostrado que tiene efecto hipoglucemiante. Sin embargo, se han reportado casos de hepatotoxicidad aguda con un incremento en las transaminasas hepáticas (ALT y AST) por el consumo continuo de dicha corteza, no obstante el procesamiento de las plantas medicinales utilizando medios físicos (calentar o hervir) puede alterar la actividad farmacológica de los constituyentes orgánicos, los cuales pueden verse también afectados en su concentración dependiendo de los factores ambientales de cultivo, localización del suelo, humedad y temperatura ambiental, así como la temporada de cosecha (tallos, hojas, flores, raíces, semillas). El consumo de esta planta medicinal es por medio de infusiones calientes o en cápsulas con extracto.

Abstract Approximately 80% of the world's population uses various medicinal plants for the treatment or control of various diseases, whether acute or chronic, due to their accessibility and low cost, observing in recent years an increase in consumption without proper medical observation. Mexico is considered the second most important country in the world in terms of traditional medicine knowledge, only after China. The use of medicinal plants has been reported since pre-Hispanic times as a therapeutic option; however, the only focus is on the curative part and it has not been considered that plants have secondary metabolites (chemical compounds produced by plants with biological activity in living beings) that, besides having therapeutic effects, have toxic effects in people who consume them, and in some cases reversible effects are observed after suspending their consumption. Copalchi or palo amargo is a medicinal plant obtained from the bark of the Hintonia latiflora tree (syn. Coutarea latiflora), which has been used mainly as an alternative treatment for patients with type 2 diabetes, since it has been shown to have a hypoglycemic effect. However, cases of acute hepatotoxicity have been reported with an increase in hepatic transaminases (ALT and AST) by the continuous consumption of this bark. However, the processing of medicinal plants using physical means (heating or boiling) can alter the pharmacological activity of the organic constituents, which can also be affected in their concentration depending on the environmental factors of cultivation, soil location, humidity, and environmental temperature, as well as the harvesting season (stems, leaves, flowers, roots, seeds). The consumption of this medicinal plant is by means of hot infusions or in capsules with extract.