Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis.

Endometriosis is a complex disease that affects 10-15% of women of reproductive age. Familial studies show that relatives of affected patients have a higher risk of developing the disease, implicating a genetic role for this disorder. Little is known about the impact of germline genomic copy number variant (CNV) polymorphisms on the heredity of the disease. In this study, we describe a rare CNV identified in two sisters with familial endometriosis, which contain genes that may increase the susceptibility and progression of this disease. We investigated the presence of CNVs from the endometrium and blood of the sisters with endometriosis and normal endometrium of five women as controls without the disease using array-CGH through the Agilent 2x400K platform. We excluded common CNVs that were present in the database of genomic variation. We identified, in both sisters, a rare CNV gain affecting 113kb at band 3q12.2 involving two candidate genes: ADGRG7 and TFG. The CNV gain was validated by qPCR. ADGRG7 is located at 3q12.2 and encodes a G protein-coupled receptor influencing the NF-kappaß pathway. TFG participates in chromosomal translocations associated with hematologic tumor and soft tissue sarcomas, and is also involved in the NF-kappa B pathway. The CNV gain in this family provides a new candidate genetic marker for future familial endometriosis studies. Additional longitudinal studies of affected families must confirm any associations between this rare CNV gain and genes involved in the NF-kappaß pathway in predisposition to endometriosis.

Viability Study of Serra da Estrela Dog Wool to Produce Green Composites.

The environmental emergency has alerted consumers and industries to choose products derived from renewable sources over petroleum derivatives. Natural fibers of plant origin for reinforcing composite materials dominate the field of research aiming to replace synthetic fibers. The field of application of green dog wool composite materials needs to be reinforced and proven, as the industry is looking for more sustainable solutions and on the other hand this type of raw material (pet grooming waste) tends to grow. Hence, in the present work, the feasibility of applying natural fibers of dog origin (mainly composed by keratin) in green composites was studied. The green composites were developed using chemically treated dog wool of the breed Serra da Estrela (with NaOH and PVA) as reinforcement and a green epoxy resin as a matrix. The chemical treatments aimed to improve adhesion between fibers and matrix. The fibers' composition was determined using X-ray Diffraction (X-RD). Their morphology was determined using a scanning electron microscope (SEM). The wettability of the fiber was also evaluated qualitatively by analyzing drops of resin placed on the fibers treated with the different treatments. The mechanical properties of the composites were also studied through mechanical tensile, flexural, and relaxation tests. Overall, the best results were obtained for the dog wool fibers without treatment. The tensile and flexural strength of this biocomposite were 11 MPa and 26.8 MPa, respectively, while the tensile and flexural elastic modulus were 555 MPa and 1100 MPa, respectively. It was also possible to verify that the PVA treatment caused degradation of the fiber, resulting in a decrease in mechanical tensile strength of approximately 42.7%, 59.7% in flexural strength and approximately 59% of the stress after 120 min of relaxation when compared to fiber made from untreated dog wool. On the other hand, the NaOH treatment worked as a fiber wash process, removing waxes and fats naturally present on the fiber surface.

Sulphur Amino Acids: How Important is it to Set Reference Ranges for Each Population?

INTRODUCTION: Metabolism of sulfur amino acids requires an optimal interplay between nutritional demand, enzymes, transporters, and adequate dietary intake of B vitamins. Insufficient intake and excess are detrimental, and concentrations depend on health status. However, plasma aminothiol concentrations, previously reported in healthy subjects using highly sensitive methods, vary considerably, and age- and gender differences were observed. Therefore, defining age- and gender-specific ranges for each population is crucial to evaluate the meaning of plasma thiol redox state in health and disease. METHODS: A healthy Portuguese pediatric population (n=90), aged 9- (n=38) and 17-year-old (n=52), was evaluated. Plasma aminothiols, total homocysteine (tHcy), cysteine (tCys), glutathione (tGSH) and γ-glutamylcysteine (tγ-Glu-Cys), were analysed as SBD-F derivatives by HPLC with fluorescence detection. RESULTS/CASE REPORT: Mean plasma concentrations (SD) for the 9- and the 17-year-old groups, were as following: tHcy = 4.58 (0.98); 8.13 (3.27) µM, p <0.001; tCys = 207.34 (32.07); 198.59 (21.24) µM, p = 0.274; tGSH = 4.54 (1.08); 5.20 (1.84) µM, p = 0.123 and tγ-Glu-Cys = 1.47 (0.30); 1.06 (0.28) µM, p < 0.001, respectively. No statistically significant differences were found between males and females in the 9-year-old group. However, in the 17-year-old group, significant differences between genders were observed for tHcys (p < 0.001) and tγ-Glu-Cys (p = 0.039), with males presenting the highest concentrations. When correlating the four thiols' plasma concentrations, only the precursors of glutathione, tγ-Glu-Cys and tCys, were positively correlated (r = 0.450, p < 0.001). CONCLUSION: Our results showed significant differences in tHcy and tγ-Glu-Cys levels across both age groups, which increased and decreased with age, respectively. It is interesting to highlight that in the 17-year-old group, tHcy and tγ-Glu-Cys levels were higher in males than in females. These observations showed that age and gender influence plasma levels of thiols, which may impact cellular oxidative status. In conclusion, setting age and gender distinct ranges for each specific population is of utmost importance for understanding disease mechanisms and the effectiveness of therapeutic interventions.

Identification of a rare copy number polymorphic gain at 3q12.2 with candidate genes for familial endometriosis

Abstract Endometriosis is a complex disease that affects 10-15% of women of reproductive age. Familial studies show that relatives of affected patients have a higher risk of developing the disease, implicating a genetic role for this disorder. Little is known about the impact of germline genomic copy number variant (CNV) polymorphisms on the heredity of the disease. In this study, we describe a rare CNV identified in two sisters with familial endometriosis, which contain genes that may increase the susceptibility and progression of this disease. We investigated the presence of CNVs from the endometrium and blood of the sisters with endometriosis and normal endometrium of five women as controls without the disease using array-CGH through the Agilent 2x400K platform. We excluded common CNVs that were present in the database of genomic variation. We identified, in both sisters, a rare CNV gain affecting 113kb at band 3q12.2 involving two candidate genes: ADGRG7 and TFG. The CNV gain was validated by qPCR. ADGRG7 is located at 3q12.2 and encodes a G protein-coupled receptor influencing the NF-kappaβ pathway. TFG participates in chromosomal translocations associated with hematologic tumor and soft tissue sarcomas, and is also involved in the NF-kappa B pathway. The CNV gain in this family provides a new candidate genetic marker for future familial endometriosis studies. Additional longitudinal studies of affected families must confirm any associations between this rare CNV gain and genes involved in the NF-kappaβ pathway in predisposition to endometriosis.

Randomized Trial of an Organizational Implementation Strategy to Improve Measurement-Based Care Fidelity and Youth Outcomes in Community Mental Health.

OBJECTIVE: Measurement-based care (MBC), which collects session-by-session symptom data from patients and provides clinicians with feedback on treatment response, is a highly generalizable evidence-based practice with significant potential to improve the outcomes of mental health treatment in youth when implemented with fidelity; however, it is rarely used in community settings. This study tested whether an implementation strategy targeting organizational leadership and organizational implementation climate could improve MBC fidelity and clinical outcomes for youth in outpatient mental health clinics. METHOD: In a cluster randomized trial, 21 clinics were assigned to the Leadership and Organizational Change for Implementation strategy plus training and technical assistance in MBC (k = 11, n = 117) or training and technical assistance only (k = 10, n = 117). Primary outcomes of MBC fidelity (assessed via electronic metadata) and youth symptom improvement (assessed via caregiver-reported change on the Shortform Assessment for Children Total Problem Score) were collected for consecutively enrolled youths (ages 4-18 years) who initiated treatment in the 12 months following MBC training. Outcomes of each youth were assessed for 6 months following baseline. RESULTS: A total of 234 youths were enrolled and included in intent-to-treat analyses. At baseline, there were no significant differences by condition in clinic, clinician, or youth characteristics. Youths in clinics using the Leadership and Organizational Change for Implementation strategy experienced significantly higher MBC fidelity compared with youths in control clinics (23.1% vs 3.4%, p = .014), and exhibited significantly greater reductions in symptoms from baseline to 6 months (d = 0.31, 95% CI: 0.04-0.58, p = .023). CONCLUSION: Implementation strategies targeting organizational leadership and focused implementation climate can improve fidelity to evidence-based practices and clinical outcomes of youth mental health services. CLINICAL TRIAL REGISTRATION INFORMATION: Working to Implement and Sustain Digital Outcome Measures (WISDOM); https://clinicaltrials.gov/; NCT04096274.

The consequences of job crafting and engagement in the relationship between passion for work and individual performance of Portuguese workers.

Introduction: This study sought to relate the two types of work passion, harmonious passion and obsessive passion, to the organizational consequences of engagement, job crafting, and perceived individual job performance. This study was based on the Employee Work Passion Appraisal model and conducted to evaluate possible statistical associations of the dualistic approach of passion used as an antecedent of positive and negative organizational outcomes (engagement, job crafting, and perceived individual job performance). Methods: The data collection and analysis for this study were accomplished by a transversal and quantitative study design. A non-probabilistic method was used to select a convenience sample composed of 305 Portuguese workers and was collected online from March to October 2020. The proposed hypotheses were evaluated using partial structural equation models. Results: Overall, the results supported the proposed hypotheses and showed that harmonious passion positively affected organizational outcomes, while obsessive passion negatively affected these outcomes; notably, our findings also revealed high individual performance, high obsessive passion, and consequently, a significant increase in structural labor resources, a significant decrease in harmful labor demands, and high absorption. Discussion: The findings highlight the importance of distinguishing between harmonious passion and obsessive passion in understanding their consequences for organizational outcomes. Promoting harmonious passion while managing the potential negative effects of obsessive passion is crucial for enhancing positive job-related behaviors and performance. Future research should explore interventions and strategies to foster harmonious passion, mitigate the negative impacts of obsessive passion, and ultimately improve overall work engagement and performance.

Treatment of acute exacerbations of trigeminal neuralgia in the emergency department: A retrospective case series.

OBJECTIVE: To evaluate the response to treatment of acute trigeminal neuralgia (TN) exacerbations in the emergency department (ED). BACKGROUND: TN is characterized by recurrent and intense pain paroxysms. Some patients experience severe acute exacerbations requiring ED presentation. The optimal management of these episodes is not well established. METHODS: We present a case series of TN exacerbations in adults who presented to the ED of a tertiary center from January 2008 to December 2020. We analyzed demographic and clinical data, including pharmacological management in the ED. The primary outcome was pain relief, classified into "no relief," "partial relief," and "satisfactory relief" based on the qualitative description in the ED's records. RESULTS: Ultimately 197 crisis episodes corresponding to 140 patients were included. Most were women (61%, 121/197) with a median age of 63 years (interquartile range: 52-73). Acute TN exacerbations were treated with opioids in 78% (108/139) of crisis episodes, nonsteroidal anti-inflammatory drugs in 42% (58/139), corticosteroids in 21% (29/139), intravenous phenytoin in 18% (25/139), and intravenous lidocaine in 6% (8/139). Of the 108 cases treated with opioids, 78 (72%) required additional drugs for pain management. Intravenous phenytoin allowed satisfactory pain relief in 64% of cases. CONCLUSION: In our sample, opioids were the most used therapeutic approach in acute TN exacerbations despite their low efficacy and subsequent need for further drug treatment in most cases. Most crisis episodes managed with intravenous phenytoin reached total pain relief. Prospective studies are needed to guide the treatment of acute exacerbations of TN.

O efeito do tipo de mulher na categorização social inicial e na atribuição de características estereotípicas / The Effect of Woman's Type on Initial Social Categorization and the Attribution of Stereotypical Characteristics

Resumo Introdução: Os estereótipos de género dizem respeito a crenças partilhadas sobre os atributos físicos, psicológicos e comportamentais de homens e mulheres. De acordo com a literatura, observa-se alguma variabilidade nos estereótipos para a categoria mulher, em função de serem associadas a uma de três subcategorias: mulher tradicional, mulher independente e mulher sexy. Este estudo pretendeu observar os estereótipos predominantes e diferenciadores de cada tipo de mulher e a formação de impressões numa amostra portuguesa. Método: Os participantes (N = 78), distribuídos em 6 condições de acordo com o design experimental 3 (tipo de mulher: tradicional, independente vs. sexy) x 2 (sexo do participante: homem vs. mulher), deveriam, com base numa descrição prévia, indicar a área profissional, aparência física e modo de vestir da mulher alvo e formar uma impressão em termos dos atributos calorosa e competente. Resultados: Os resultados indicam maiores avaliações de calor para a mulher tradicional, pouca variabilidade nas avaliações de competência e as respostas obtidas através da análise semântica conferem diferentes imagens para os três subgrupos de mulher. Conclusões: Os resultados confirmam parcialmente as hipóteses e são discutidos com base nas implicações para a literatura dos estereótipos de género.

Abstract Introduction: Gender stereotypes are beliefs about the physical, psychological, and behavioral attributes of men and women. According to the literature, there is some variability in stereotypes for the woman category, as they are associated with one of three subcategories: traditional woman, independent woman, and sexy woman. This study aimed to observe the predominant and differentiating stereotypes of each type of woman and the formation of impressions in a Portuguese sample. Method: Participants (N = 78), distributed in 6 conditions according to the experimental design 3 (woman type: traditional, independent vs. sexy) x 2 (participant's gender: male vs. female), should base on a previous description indicate the professional field, physical appearance and dress of the target woman and form an impression in terms of warm and competent attributes. Results: The results indicate higher warmth ratings for traditional women, little variability in competency ratings, and the responses obtained through semantic analysis provide different images for the three subgroups of women. Conclusions: The results partially confirm the hypotheses and are discussed based on the implications for the gender stereotypes` literature.

Promoting Success and Persistence in Pandemic Times: An Experience With First-Year Students.

The transition and adaptation of students to higher education (HE) involve a wide range of challenges that justify some institutional practices promoting skills that enable students to increase their autonomy and to face the difficulties experienced. The requirements for this adaptation were particularly aggravated by the containment and sanitary conditions associated with coronavirus disease 2019 (COVID-19). With the aim of promoting academic success and preventing dropout in the first year, a support program was implemented for students enrolled in two courses in the area of education at a public university in northern Portugal during the first semester of 2020/2021. Three sessions of 50/60 min were implemented, namely, the first session focused on the verbalization of the demands, challenges, and difficulties of the transition, and the second and third sessions focused on the difficulties of academic adaptation and academic performance. Data from a dropout risk screening instrument and from the activities performed during sessions were analyzed. The main results point to student satisfaction with the content and the activities of the sessions and their usefulness. Students report not only high satisfaction levels with HE attendance, but also some emotional exhaustion due to academic activities. The continuity of the program is recommended with some improvements in its planning to ensure a more definitive version of the program in the next two years.

Are We Getting Less Sexist? A Ten-Year Gap Comparison Analysis of Sexism in a Portuguese Sample.

Widely and slowly, discrimination against women based upon gender has become socially unacceptable. However, less is known about how sexist beliefs have progressed in the last years and if we are responding to this social antagonizing of a sexist discourse. Our goal was to verify the existence of differences in ambivalent sexism and neosexism over a ten-year gap in a Portuguese adult sample and to assess possible modifications in the relationship between the variables. A cross-sectional, correlational study was conducted using two independent groups, with measures taken in 2009 and then in 2019. Both groups were invariant in terms of average age and proportion of sexes. Our results show a decrease in hostile and benevolent forms of sexism, while neosexism remains constant. The relationships between variables suggest that sexist beliefs are changing to accommodate subtler and modernized forms of sexism, like neosexism, that deny the existence of discrimination against women, resent discrimination complaints, and maintain a paternalistic view of women. Neosexism also seems to have a stronger correlation with hostile sexism than with benevolent forms of sexism in the male subsample. This relationship is stronger for the 2019 sample. These relationships suggest that sexism is more deeply rooted than we would like to admit and adapts to social discourse. Despite our best efforts, it is yet to be overcome.

Meditation Effects on Anxiety and Resilience of Preadolescents and Adolescents: A Randomized Controlled Study.

Meditation has been described as having a positive impact on well-being while reducing anxiety and stress among those who practice, mainly working as a resource to cope with everyday difficulties. As a simple and easy to apply meditation technique, transcendental meditation (TM) has shown promising results in adults and in children, although more studies are needed to show the impact on psychological and behavioral dimensions in children and adolescents. This quasi-experimental, pre-test-post-test study, with a control group, aimed to evaluate the impact of TM on the stress and resilience of children and adolescents, with ages between 9 and 16 years old. Participants were selected within schools which implemented the Quiet Time Program (QT), from those who volunteered to participate. They were randomly assigned to an experimental group (immediate TM learning) and to a control group (delayed TM learning). A repeated measures ANOVA showed an interaction of time and group on externalizing behavior, from the strengths and difficulties measure. The experimental group decreased on externalizing less adjusted behaviors, while the control group increased in this aspect, after a twelve-week period. TM failed to reduce anxiety and to contribute to resilience in the TM experimental group. Both groups improved anxiety indicators. The results might suggest students were acting upon their expectation of improvement on practicing TM or solely modifying their behavior along the contextual factors, which affected both groups equally.

Partial Monosomy 4p and Trisomy 12q due to a t(4;12)(p16.3;q24.31) Familial Translocation in Two Cousins.

Wolf-Hirschhorn syndrome (WHS) is caused by a distal 4p monosomy usually involving the region of the WHSC1 and WHSC2 genes. About 40-45% of WHS patients show an unbalanced translocation leading to both 4p monosomy and partial trisomy of another chromosome arm. In this case report, we describe 2 female cousins (P1 and P2) with a derivative chromosome leading to a 4p16.3pter deletion and 12q24.31qter duplication. Conventional karyotyping and genomic analyses showed that they both had the same rearrangement derived from a balanced parental translocation involving chromosomes 4 and 12, t(4;12)(p16.3;q24.31). The rearrangements occurred between 4p16.3pter and 12q24.31qter detected by array-CGH analysis, with a 2.7-Mb loss at 4p and a large 12.4-Mb gain at 12q. Both affected patients shared global developmental delay and craniofacial dysmorphisms with some distinct phenotypic findings associated with both WHS and 12qter trisomy. P2 was more severely impaired than P1, and she showed severe intellectual disability, seizures, midface hypoplasia, unilateral microtia, and deafness which were absent in P1. Previous studies of distal 4p monosomies have found phenotypic variability in WHS which does not correlate with haploinsufficiency of specific genes. Features of 12q trisomies are diverse with developmental and growth delay, intellectual disability, behavioral problems, and facial abnormalities. Collectively, our analysis of the literature of 3 similar translocations involving 4p and 12q, together with the clinical features of the affected cousins in this familial translocation, permits an evaluation of genes closely linked to WHSC1 and WHSC2 in the context of WHS and the genes involved in 12q trisomy.

Clinical assessment, diagnosis and management of patients with unilateral sinonasal disease / Evaluación clínica, diagnóstico y manejo de pacientes con patología nasosinusal unilateral

OBJECTIVES: Unilateral sinonasal disease is commonly encountered in practice and represents an issue of major concern since neoplasms may mimic inflammatory conditions. This paper aims to describe the demographic, clinical and radiological patterns of unilateral pathologies and, accordingly, to establish a guiding algorithm for diagnosis and management. MATERIAL AND METHODS: We conducted a retrospective review of medical records of patients with unilateral sinus opacification on CT scan who underwent endoscopic nasal surgery in our department from January 2011 to December 2017. RESULTS: Of the 150 patients included, 97(64.7%) and 53(35.3%) had inflammatory and neoplastic pathology, respectively. In the neoplastic group, malignancy was present in 35% of patients. Neoplastic conditions were more common in males (p = 0.02) and older patients (56 ± 18 years vs. 38 ± 18, p < .01). Nasal mass or polyp was observed in 56.7% patients. Chronic sinusitis was the most prevalent inflammatory condition, whereas inverted papilloma and osteoma were the most frequent neoplasms. Facial neuralgia, paraesthesia, epistaxis and, on CT scan, superior Lund-Mackay scores, bone remodelling and erosion were significantly more common in neoplastic conditions. Excellent agreement between punch biopsy and postoperative histological results was obtained (k = .883, p < .001). CONCLUSION: A sequential and careful management of unilateral lesions is mandatory. Based on our experience, we propose that, as routine, physical examination should be complemented with nasal endoscopy, CT scan and punch biopsy, in case of visible mass. Although clinical and radiological information might raise suspicion of some conditions, final diagnosis can only be established with histological examination of the surgical specimen

OBJETIVOS: La patología nasal unilateral es común en la práctica clínica y causa preocupación ya que las neoplasias pueden mimetizar las condiciones inflamatorias. Este trabajo pretende describir los patrones demográficos, clínicos y radiológicos de las patologías unilaterales y establecer un algoritmo para el diagnóstico y manejo. MATERIAL Y MÉTODOS: Revisión retrospectiva de los registros médicos de pacientes con opacificación sinusal unilateral en la TC sometidos a cirugía nasal endoscópica en nuestro servicio desde enero de 2011 hasta diciembre de 2017. RESULTADOS: De los 150 pacientes incluidos, 97(64,7%) y 53(35,3%) presentaban patología inflamatoria y neoplásica, respectivamente. En el grupo neoplásico, la malignidad estaba presente en el 35% de los pacientes. Las condiciones neoplásicas fueron más comunes en hombres (p = 0,02) y pacientes mayores (56 ± 18 años vs. 38 ± 18, p < 0,01). Se observó masa nasal en el 56,7% de los pacientes. La sinusitis crónica fue la afección inflamatoria más prevalente, mientras que el papiloma invertido y el osteoma fueron las neoplasias más frecuentes. La neuralgia facial, la parestesia, la epistaxis y, en la TC, las puntuaciones superiores de Lund-Mackay, remodelación y erosión ósea fueron significativamente más comunes en los trastornos neoplásicos. Se encontró una excelente concordancia entre la biopsia por punción y los resultados histológicos postoperatorios (k = 0,88, p < 0,01). CONCLUSIÓN: Con base en nuestra experiencia, proponemos que, el examen físico se complemente con endoscopia nasal, TC y biopsia, en caso de una masa visible. A pesar de que la información clínica y radiológica puede generar sospechas de algunas afecciones, el diagnóstico final solo se puede establecer con el examen histológico postoperatorio

Clinical assessment, diagnosis and management of patients with unilateral sinonasal disease.

OBJECTIVES: Unilateral sinonasal disease is commonly encountered in practice and represents an issue of major concern since neoplasms may mimic inflammatory conditions. This paper aims to describe the demographic, clinical and radiological patterns of unilateral pathologies and, accordingly, to establish a guiding algorithm for diagnosis and management. MATERIAL AND METHODS: We conducted a retrospective review of medical records of patients with unilateral sinus opacification on CT scan who underwent endoscopic nasal surgery in our department from January 2011 to December 2017. RESULTS: Of the 150 patients included, 97(64.7%) and 53(35.3%) had inflammatory and neoplastic pathology, respectively. In the neoplastic group, malignancy was present in 35% of patients. Neoplastic conditions were more common in males (p=0.02) and older patients (56±18 years vs. 38±18, p<.01). Nasal mass or polyp was observed in 56.7% patients. Chronic sinusitis was the most prevalent inflammatory condition, whereas inverted papilloma and osteoma were the most frequent neoplasms. Facial neuralgia, paraesthesia, epistaxis and, on CT scan, superior Lund-Mackay scores, bone remodelling and erosion were significantly more common in neoplastic conditions. Excellent agreement between punch biopsy and postoperative histological results was obtained (k=.883, p<.001). CONCLUSION: A sequential and careful management of unilateral lesions is mandatory. Based on our experience, we propose that, as routine, physical examination should be complemented with nasal endoscopy, CT scan and punch biopsy, in case of visible mass. Although clinical and radiological information might raise suspicion of some conditions, final diagnosis can only be established with histological examination of the surgical specimen.

Creative Curriculum: The Experience of Writing and Teaching Formative Objective Structured Clinical Examinations (FOSCEs).

The launch of the revised medical school curriculum in fall 2014 provided new opportunities for librarians to collaborate with clinical faculty. As a result of past informatics instruction embedded in the first-year curriculum, librarians were invited to expand this content as part of a new Formative Objective Structured Clinical Examination (FOSCE) initiative. This article describes the stages of this project from writing and teaching the FOSCE informatics cases to improvements which were made after the first year. A description of the overall curriculum and information about lessons learned in each of these stages is included.

The Development and Impact of a Social Media and Professionalism Course for Medical Students.

PROBLEM: Inappropriate social media behavior can have detrimental effects on students' future opportunities, but medical students are given little opportunity to reflect upon ways of integrating their social media identities with their newly forming professional identities. INTERVENTION: In 2012, a required educational session was developed for 1st-year medical students on social media and professional identity. Objectives include identifying professionalism issues and recognizing positive social media use. The 2-hour large-group session uses student-generated social media examples to stimulate discussion and concludes with an expert panel. Students complete a postsession reflection assignment. CONTEXT: The required social media session occurs early in the 1st year and is part of the Professionalism curriculum in The George Washington University School of Medicine. Reflection papers are graded for completion. OUTCOME: The study began in 2012 and ran through 2014; a total of 313/505 participants (62%) volunteered for the study. Assessment occurred through qualitative analysis of students' reflection assignments. Most students (65%, 203/313) reported considering changes in their social media presence due to the session. The analysis revealed themes relating to a broader understanding of online identity and opportunities to enhance careers. In a 6-month follow-up survey of 76 students in the 2014 cohort who completed the entire survey, 73 (94%) reported some increase in awareness, and 48 (64%) made changes to their social media behavior due to the session (response rate = 76/165; 46%), reflecting the longer term impact. LESSONS LEARNED: Opportunities for discussion and reflection are essential for transformational learning to occur, enabling understanding of other perspectives. Incorporating student-submitted social media examples heightened student interest and engagement. The social media environment is continually changing, so curricular approaches should remain adaptable to ensure timeliness and relevance. Including online professionalism curricula focused on implications and best practices helps medical students develop an awareness of their electronic professional identities.

Complex Mosaic Ring Chromosome 11 Associated with Hemizygous Loss of 8.6 Mb of 11q24.2qter in Atypical Jacobsen Syndrome.

Jacobsen syndrome (JBS) is a contiguous gene deletion syndrome involving terminal chromosome 11q. The haploinsufficiency of multiple genes contributes to the overall clinical phenotype, which can include the variant Paris-Trousseau syndrome, a transient thrombocytopenia related to FLI1 hemizygous deletion. We investigated a boy with features of JBS using classic cytogenetic methods, FISH and high-resolution array CGH. The proband was found to have a mosaic ring chromosome 11 resulting in a hemizygous 11q terminal deletion of 8.6 Mb, leading to a copy number loss of 52 genes. The patient had a hemizygous deletion in the FLI1 gene region without apparent thrombocytopenia, and he developed diabetes mellitus type I, which has not previously been described in the spectrum of disorders associated with JBS. The relationship of some of the genes within the context of the phenotype caused by a partial deletion of 11q has provided insights concerning the developmental anomalies presented in this patient with atypical features of JBS.

Predicting Condom Use: A Comparison of the Theory of Reasoned Action, the Theory of Planned Behavior and an Extended Model of TPB / Predizendo o Uso de Preservativo: Uma Comparação entre a Teoria da Ação Racionalizada, a Teoria do Comportamento Planejado (TCP) e um Modelo Estendido de TCP

ABSTRACT It was our goal to give a contribution to the prediction of condom use using socio-cognitive models, comparing classic theories to an extended model. A cross-sectional study was conducted using a questionnaire of self-reported measures. From the students who agreed to participate in the study, 140 were eligible for the full study. A confirmatory analysis was used to assess the predictive value of the researched model. The model tested had slightly better fit indexes and predictive value than classic Theories of Reasoned Action and Planned Behaviour. Although the results found, discussion continues to understand the gap between intention and behaviour, as further investigation is necessary to fully understand the reasons for condom use inconsistency.

RESUMO Tivemos como objetivo contribuir para a predição do uso de preservativo utilizando modelos sociocognitivos, comparando teorias clássicas a um modelo estendido. Um estudo transversal foi conduzido com o uso de questionário de auto-relato. Entre os estudantes que aceitaram participar do estudo, 140 mostraram-se elegíveis a participar do estudo em sua totalidade. Uma análise confirmatória foi utilizada para acessar o valor preditivo do modelo pesquisado. O modelo testado apresentou melhores índices de ajustamento e valor preditivo que as clássicas teorias da Ação Racionalizada e do Comportamento Planejado. Apesar dos resultados obtidos, continua a discussão para entender as discrepâncias entre intenção e comportamento, assim como são necessários mais estudos que permitam melhor compreender a inconsistência nas razões para o uso de preservativos.