Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, and facial dysmorphism. Here, we present a cohort of 33 individuals with clinical features distinct from FLHS and truncating (mostly de novo) SRCAP variants either proximal (n = 28) or distal (n = 5) to the FLHS locus. Detailed clinical characterization of the proximal SRCAP individuals identified shared characteristics: developmental delay with or without intellectual disability, behavioral and psychiatric problems, non-specific facial features, musculoskeletal issues, and hypotonia. Because FLHS is known to be associated with a unique set of DNA methylation (DNAm) changes in blood, a DNAm signature, we investigated whether there was a distinct signature associated with our affected individuals. A machine-learning model, based on the FLHS DNAm signature, negatively classified all our tested subjects. Comparing proximal variants with typically developing controls, we identified a DNAm signature distinct from the FLHS signature. Based on the DNAm and clinical data, we refer to the condition as "non-FLHS SRCAP-related NDD.'' All five distal variants classified negatively using the FLHS DNAm model while two classified positively using the proximal model. This suggests divergent pathogenicity of these variants, though clinically the distal group presented with NDD, similar to the proximal SRCAP group. In summary, for SRCAP, there is a clear relationship between variant location, DNAm profile, and clinical phenotype. These results highlight the power of combined epigenetic, molecular, and clinical studies to identify and characterize genotype-epigenotype-phenotype correlations

Can Charisma Be Taught? Tests of Two Interventions

We tested whether we could teach individuals to behave more charismatically, andwhether changes in charisma affected leader outcomes. In Study 1, a mixed-design fieldexperiment, we randomly assigned 34 middle-level managers to a control or anexperimental group. Three months later, we reassessed the managers using theircoworker ratings (Time 1 raters = 343; Time 2 raters = 321). In Study 2, a within-subjectslaboratory experiment, we videotaped 41 MBA participants giving a speech. We thentaught them how to behave more charismatically, and they redelivered the speech6 weeks later. Independent assessors (n = 135) rated the speeches. Results from thestudies indicated that the training had significant effects on ratings of leader charisma(mean D = .62) and that charisma had significant effects on ratings of leaderprototypicality and emergence...............................................................................................................................

Organisational Learning of Absorptive Capacity and Innovation: Does Leadership Matter?

Following the process-based definition of absorptive capacity, this study seeks to explore the mediating role of transformational and transactional leadership styles in the relationship between the three learning processes of absorptive capacity and innovation. Based on a survey in the United Arab Emirates (UAE), it was found that transformational leadership mediates the relationship between exploratory and transformational learning processes and innovation. It was also found that transactional leadership did not mediate the relationship between the internal exploitative learning process and innovation. Whilst several researchers have noted a need to develop a better theoretical understanding of the mechanisms explaining the interplay between absorptive capacity and innovation, we provide theoretical explanations of the underlying mechanism and further offer explanations as to why some firms are better able to convert external knowledge into strategic innovations when compared with others. The implications of these findings for theory and practice are delineated

Leadership = Communication? The relations of leaders' communication styles with leadership styles, knowledge sharing and leadership outcomes

Purpose: The purpose of this study was to investigate the relations between leaders' communication styles and charismatic leadership, human-oriented leadership (leader's consideration), task-oriented leadership (leader's initiating structure), and leadership outcomes. Methodology: A survey was conducted among 279 employees of a governmental organization. The following six main communication styles were operationalized: verbal aggressiveness, expressiveness, preciseness, assuredness, supportiveness, and argumentativeness. Regression analyses were employed to test three main hypotheses. Findings: In line with expectations, the study showed that charismatic and human-oriented leadership are mainly communicative, while task-oriented leadership is significantly less communicative. The communication styles were strongly and differentially related to knowledge sharing behaviors, perceived leader performance, satisfaction with the leader, and subordinate's team commitment. Multiple regression analyses showed that the leadership styles mediated the relations between the communication styles and leadership outcomes. However, leader's preciseness explained variance in perceived leader performance and satisfaction with the leader above and beyond the leadership style variables. Implications: This study offers potentially invaluable input for leadership training programs by showing the importance of leader's supportiveness, assuredness, and preciseness when communicating with subordinates. Originality/value: Although one of the core elements of leadership is interpersonal communication, this study is one of the first to use a comprehensive communication styles instrument in the study of leadership. © 2009 The Author(s)

Adenomyoepithelioma of the breast: A proposal for classification

Breast lesions with a prominent myoepithelial cell component constitute a heterogeneous group of benign and malignant neoplastic proliferations. These lesions are often dual epithelial‐myoepithelial but may be purely myoepithelial cell in nature. Benign epithelial‐myoepithelial lesions typically maintain the morphology and immunophenotype of the normal bilayer epithelial myoepithelial structures. However, the distinction between the two cell components is not always clear‐cut in malignant lesions in which the histogenesis of myoepithelial cells remains uncertain. Neoplastic biphasic epithelial‐myoepithelial lesions of the breast include adenomyoepithelioma (AME), pleomorphic adenoma and adenoid cystic carcinoma. Four histological patterns of classical AME have been described: tubular, lobulated, spindle cell and adenosis variants. Overlapping patterns occur and some AMEs display an intraductal papillary pattern that may represent a fifth variant. AME can be benign or malignant. Classical AME may show atypical features, which are not sufficient for the diagnosis of malignancy (atypical AME). Atypical AME is recognised as a lesion of uncertain malignant potential with limited metastatic capability. Based on the histological features, we propose a classification of malignant AME (M‐AME) into three variants: M‐AME in situ, M‐AME invasive and AME with invasive carcinoma. In this review, we provide an overview of myoepithelial lesions of the breast focusing on the classification of AME to improve not only the consistency of reporting but also help guide further management decision making

Truncating SRCAP variants outside the Floating-Harbor syndrome locus cause a distinct neurodevelopmental disorder with a specific DNA methylation signature

Truncating variants in exons 33 and 34 of the SNF2-related CREBBP activator protein (SRCAP) gene cause the neurodevelopmental disorder (NDD) Floating-Harbor syndrome (FLHS), characterized by short stature, speech delay, and facial dysmorphism. Here, we present a cohort of 33 individuals with clinical features distinct from FLHS and truncating (mostly de novo) SRCAP variants either proximal (n = 28) or distal (n = 5) to the FLHS locus. Detailed clinical characterization of the proximal SRCAP individuals identified shared characteristics: developmental delay with or without intellectual disability, behavioral and psychiatric problems, non-specific facial features, musculoskeletal issues, and hypotonia. Because FLHS is known to be associated with a unique set of DNA methylation (DNAm) changes in blood, a DNAm signature, we investigated whether there was a distinct signature associated with our affected individuals. A machine-learning model, based on the FLHS DNAm signature, negatively classified all our tested subjects. Comparing proximal variants with typically developing controls, we identified a DNAm signature distinct from the FLHS signature. Based on the DNAm and clinical data, we refer to the condition as "non-FLHS SRCAP-related NDD.'' All five distal variants classified negatively using the FLHS DNAm model while two classified positively using the proximal model. This suggests divergent pathogenicity of these variants, though clinically the distal group presented with NDD, similar to the proximal SRCAP group. In summary, for SRCAP, there is a clear relationship between variant location, DNAm profile, and clinical phenotype. These results highlight the power of combined epigenetic, molecular, and clinical studies to identify and characterize genotype-epigenotype-phenotype correlations.Genetics of disease, diagnosis and treatmen

Nivel de conocimientos de estudiantes de medicina sobre diagnóstico y manejo del infarto agudo del miocardio

Introduction: acute myocardial infarction is a disease with high morbidity and mortality.Objective: to determine the knowledge level of medical students about the diagnosis and management of acute myocardial infarction.Method: an observational, descriptive and cross-sectional study was carried out between January and February 2022 in medical students from the University of Medical Sciences of Pinar del Río who participated in the provincial update workshop on acute myocardial infarction. Through intentional sampling, a sample of 92 students was selected. To collect the information, a survey was used using Google Forms.Results: the female sex (65,21%), the age group from 21 to 22 years (65,21%) and the fourth-year students (50%) prevailed. Hypertension was the most identified risk factor (97,98%). 97,82% of the students identified precordial pain as the main clinical manifestation. 100% identified the presentation with complications, where sudden death was the most identified (81,52%). 100% point to the electrocardiogram as the main complementary, where ST alterations were the most identified (84,78%). 95,65% of the students indicated constant monitoring of vital parameters and cardiovascular function as the management measure.Conclusions: Medicine students belonging to the clinical area at the University of Medical Sciences of Pinar del Río have an adequate level of knowledge about the diagnosis and management of acute myocardial infarction.Introducción: el infarto agudo del miocardio constituye una enfermedad con elevada morbilidad y mortalidad.Objetivo: determinar el nivel de conocimientos de estudiantes de medicina sobre el diagnóstico y manejo del infarto agudo del miocardioMétodo: se realizó un estudio observacional, descriptivo y transversal entre enero y febrero de 2022 en estudiantes de Medicina de la Universidad de Ciencias Médicas de Pinar del Río del ciclo clínico que participaron en el Taller provincial de actualización sobre infarto agudo de miocardio. Mediante un muestreo intencional se seleccionó una muestra de 92 estudiantes. Para la recolección de la información se empleó una encuesta mediante Google Forms.Resultados: predominó el sexo femenino (65,21 %), el grupo etario de 21 a 22 años (65,21 %) y los estudiantes de cuarto año (50 %). La hipertensión fue el factor de riesgo más identificado (97,98 %). El 97,82 % de los estudiantes identificó el dolor precordial como principal manifestación clínica. El 100 % identificó la presentación con complicaciones, donde la muerte súbita fue la más identificada (81,52 %). El 100 % señala al electrocardiograma como principal complementario, donde las alteraciones del ST fueron las más identificada (84,78 %). El 95,65 % de los estudiantes indicaron la monitorización constante de los parámetros vitales y función cardiovascular como la medida de manejo.Conclusiones: los estudiantes de Medicina pertenecientes al área clínica en la Universidad de Ciencias Médicas de Pinar del Río poseen un adecuado nivel de conocimientos sobre el diagnóstico y manejo del infarto agudo del miocardio.  

Impact of organisational justice in an expatriate work environment

Purpose This study analyses the impact of organisational justice as encompassed by three components, distributive justice, procedural justice and interactional justice on self assessed performance and job satisfaction of employees in an expatriate environment. The study investigates the impact of these justice measures on expatriates and United Arab Emirates (UAE) nationals. Design/methodology/approach The organisational justice measures developed by Niehoff and Moorman were used to test their impact on employee performance and job satisfaction amongst the two groups; expatriates who work in the UAE, and UAE nationals. Data were collected from employees working in the UAE. Descriptive statistics, inter correlations and regression analyses was used to examine the data. Findings For the UAE nationals group, distributive and interactional justice has a significant impact on both satisfaction and performance. All justice constructs had an impact on satisfaction for the expatriate group, but surprisingly none of these components of organizational justice had an impact on self‐perceived performance of expatriates. The effects of gender, age and salary levels were also explored. Research limitations/implications Self‐perceived performance is used to measure performance which is a limitation and it would be of value to try to independently measure performance. Practical implications Given the large expatriate workforce in the UAE, the study highlights the need for companies to train and educate their managers as to the impact of the perceived lack of justice on the motivation and commitment of their employees. Originality/value This study is the first of its kind in the UAE and was conducted in a highly diverse work environment

Internet banking: an empirical investigation into the extent of adoption by banks and the determinants of customer satisfaction in the United Arab Emirates

This study adopts the Diniz (1998) model to evaluate websites of foreign and local banks in the United Arab Emirates and through a survey of users ascertains factors that influence customer satisfaction of the internet banking service. These are convenience, independence, and security of internet banking transactions. Results suggest that although the banking sector in the United Arab Emirates is a regional leader, internet banking in the United Arab Emirates is yet to be properly utilized as a real added value tool to improve customer relationship and to attain cost advantages. To identify factors influencing satisfaction of internet banking customers, data was collected from internet banking users in the United Arab Emirates. To examine the data, a factor analyses and multiple regression analyses were conducted. It was revealed that convenience and security of internet banking transactions have a significant impact on satisfaction. The effects of age, gender, number of years as an internet banking user were also explored. Security of internet banking transactions was significant for those using internet banking for more than two years, while not for others. Implications of results were discussed, and future research directions outlined