Germline c.1A>C heterozygous pathogenic variant in SDHA reported for the first time in a young adult with a gastric gastrointestinal stromal tumour (GIST): a case report.

BACKGROUND: Gastrointestinal stromal tumors (GISTs) represent the most frequent mesenchymal tumor of the gastrointestinal tract. Less than 5% of them seem to be hereditary, being succinate dehydrogenase complex (SDHx) deficient disorders and neurofibromatosis type 1 the more related inherited conditions. Wild type (WT) KIT and PDGFRα GISTs constitute a clue for a hypothetical underlying germline condition. CASE PRESENTATION: We present a case of a 20 years old female diagnosed of a gastric WT GIST who developed hepatic metastases during her clinical course. No significant or typical phenotypic features suggestive of a specific syndrome were detected by physical examination. Also, her family history seemed to be irrelevant, since no other cases of GISTs, paragangliomas or pheochromocytomas were reported. Her paternal grandfather died as a consequence of a pituitary adenoma. In light of the age of tumor presentation and somatic features of gastric GIST, we performed genetic testing of SDHx genes. Analysis obtained from peripheral blood sample revealed the presence, in heterozygous state, of the c.1A > C; p.(Met1?) pathogenic variant in the SDHA. CONCLUSIONS: To the best of our knowledge, this is the first published report in which the c.1A > C; p.(Met1?) pathogenic variant in the SDHA is associated with a GIST. SDHA pathogenic variants increase the risk of paraganglioma, pheochromocytoma, GIST, pituitary adenoma and renal cancer in an autosomal dominant inherited condition named paraganglioma syndrome type 5. The absence of family history of tumors in SDHA pathogenic variants carriers could be related to its low penetrance. All patients diagnosed with WT GISTs should be referred to a hereditary cancer genetic counseling unit regardless of the age at presentation or the absence of a suspicious family history.

Corrigendum: Evolutionary emergence of collective intelligence in large groups of students.

[This corrects the article DOI: 10.3389/fpsyg.2022.848048.].

Evolutionary emergence of collective intelligence in large groups of students.

The emergence of collective intelligence has been studied in much greater detail in small groups than in larger ones. Nevertheless, in groups of several hundreds or thousands of members, it is well-known that the social environment exerts a considerable influence on individual behavior. A few recent papers have dealt with some aspects of large group situations, but have not provided an in-depth analysis of the role of interactions among the members of a group in the creation of ideas, as well as the group's overall performance. In this study, we report an experiment where a large set of individuals, i.e., 789 high-school students, cooperated online in real time to solve two different examinations on a specifically designed platform (Thinkhub). Our goal of this paper 6 to describe the specific mechanisms of idea creation we were able to observe and to measure the group's performance as a whole. When we deal with communication networks featuring a large number of interacting entities, it seems natural to model the set as a complex system by resorting to the tools of statistical mechanics. Our experiment shows how an interaction in small groups that increase in size over several phases, leading to a final phase where the students are confronted with the most popular answers of the previous phases, is capable of producing high-quality answers to all examination questions, whereby the last phase plays a crucial role. Our experiment likewise shows that a group's performance in such a task progresses in a linear manner in parallel with the size of the group. Finally, we show that the controlled interaction and dynamics foreseen in the system can reduce the spread of "fake news" within the group.

[Best practices that promote the safety in the accredited nurses' professional development]. / Buenas prácticas que promueven la seguridad. Desempeño profesional de las enfermeras acreditadas.

INTRODUCTION: Through the Andalusian Agency for Healthcare Quality's Skills Accreditation Model, professionals observe and recognize the proximity that exists between their real skills and those defined in their Skills Manuals. This article describe the elements contained in these Manuals, referred to the Best Professionals Practices which promote the fulfilment of the Patient's Safety strategies. MATERIALS AND METHODS: Cross-sectional descriptive analysis of the elements contained in the Skills Manuals which refer to the Safety strategies. RESULTS: 38 elements related to the Safety were identified in the Skills Manuals. Currently 618 nurses have obtained their accreditation in the Andalusian Public Health System. The Best Practices and/or Evidence, related to the Safety and that are shown up during these Accreditation Processes more frequently are related to "Implementing continuous improvement activities in relation to their results evaluation" and training in "Life Support". DISCUSSION AND CONCLUSIONS: The submission of the evidence related to Safety made by accredited nurses shows their Skills level, offers the opportunity to identify areas for improvement and professional development and enables a safer practice, preventing damage and minimizing the healthcare risks.

[The accreditation of professional competence: the analysis of nursinginterventions to control anxiety in surgical patients]. / Accreditamento della competenza professionale:un'analisi degli interventi infermieristici per ridurre l'ansia nel paziente chirurgico.

. The accreditation of professional competence: the analysis of nursing interventions to control anxiety in surgical patients. INTRODUCTION: The preoperative anxiety is a state of discomfort or unpleasant tension resulting from concerns about illness, hospitalization, anesthesia, surgery or the unknown. Nurses play a vital role reducing preoperative anxiety. An accreditation program was developed in Andalusia (Spain) to measure nurses' competences in this and others fields. AIMS: To analyze the accredited nurses' interventions spectrum to reduce anxiety in surgical patients and to check if their range of interventions depends upon their professional skills accreditation level. METHODS: Cross-sectional study. From 20016 to 2014, 1.282 interventions performed by 303 operating room nurses accredited through the Professional Skills Accreditation Program of the Andalusian Agency for Health Care Quality (ACSA) were analyzed with the latent class analysis (LCA) and multinomial logistic regression. RESULTS: Two-thirds of the sample was accredited in Advanced level, about 31% in Expert level and 2.6% in Excellent level. Mean age of patients was 58.5±19.8 years. Three professional profiles were obtained from the LCA. Those nurses classified in Class I (22.4% of the sample) were more likely to be women, to can for younger patients, and to be accredited in Expert or Excellent Level and to perform the larger range of interventions, becoming therefore the most complete professional profile. CONCLUSION: Those nurses who perform a wider range of interventions and specifically two evidence based interventions such Calming Technique and Coping Enhancement are those who have a higher level of accreditation level.

La inflamación periodontal y su relación con el embarazo y parto / Periodontal inflammation and its relationship to pregnancy and child delivery

Es sabida la influencia de la infección periodontal en la salud general de las personas, como lo determinan numerosas publicaciones demostrando las alteraciones de los distintos aparatos sistémicos y el hallazgo de bacterias y sustancias proinflamatorias que tuvieron su origen en la inflamación gingivoperiodontal. La bibliografía internacional muestra la influencia de la periodontitis en la alteración del tiempo de embarazo y del peso del recién nacido como consecuencia de la existencia de enfermedad periodontal en las futuras madres. Con el objetivo de conocer tal situación en nuestro medio, estudiamos un grupo de mujeres embarazadas registrando el estado periodontal y su seguimiento hasta el parto para establecer el tiempo de gestación y el peso de los recién nacidos.

Evaluación y mejoría del dolor en niños atendidos por enfermeras acreditadas: estudio descriptivo / Pain assessment and improvement in children treated by accredited nurses: descriptive study

Antecedentes: la evaluación del dolor es una tarea compleja que requiere de un esfuerzo considerable dada su naturaleza multidimensional. Esta evaluación es, si cabe, más compleja en el caso de los niños debido a las dificultades de comunicación y dominio del lenguaje. Objetivos: analizar la reducción del dolor logrado por enfermeras acreditadas, en función de la edad de los niños atendidos. Metodología: se utilizaron 161 evaluaciones del dolor percibido en niños de entre 0 y 15 años, realizadas por 93 enfermeras acreditadas entre septiembre de 2006 y julio de 2011. Para la elaboración de los análisis descriptivos se utilizó el test estadístico Chi-cuadrado. Se calcularon las Odds ratio para la probabilidad de reducir el dolor a 0 en los niños según su edad. Resultados: los resultados evidenciaron que las enfermeras presentan un mayor nivel de competencias en la reducción del dolor en niños de edades comprendidas entre 2 y 3 años, observándose hasta los 10 años una leve tendencia negativa en la capacidad de reducir el dolor a cero por parte de las enfermeras, a medida que aumenta la edad del niño. Conclusiones: este trabajo aborda la evaluación del dolor, realizada por el conjunto de enfermeras de cuidados infantiles, que trabajan en los servicios de salud públicos de Andalucía, y que han sido acreditadas por la Agencia de Calidad Sanitaria de Andalucía, España. Las enfermeras utilizaron distintos tipos de escalas de medición del dolor, en función del desarrollo cognitivo de los niños atendidos.

Background. Pain assessment is a complex task that requires considerable effort due to its multidimensional nature. This assessment is, if anything, more complex in the case of children due to the difficulties of communication and language proficiency. Aim. To analyse pain reduction achieved by accredited nurses depending on the age of the children treated. Method. 161 assessments of perceived pain in children aged 0 to 15 years conducted by 93 accredited nurses between September 2006 and July 2011 were used. Chi-square tests were applied for descriptive analysis. Odds ratio for probabilities of reducing pain to 0 was calculated according the age of the children. Results. The results show that nurses have a higher level of competency in reducing pain in children aged between 2 and 3 years, showing a mild negative trend in the ability to reduce pain to zero, with increasing child's age. Conclusions. This paper addresses the assessment of pain, held by all child-care nurses who work in Public Health Services of Andalusia (Spain), which have been accredited by the Andalusian Agency for Healthcare Quality. Nurses have used different types of pain measurement scales, depending on the cognitive development of children treated.

Presencia de factores sistémicos en los distintos estados periodontales / The presence of systemic factors in the different periodontal conditions

Se escribe sobre la importancia de la infección que representa la enfermedad periodontal como iniciación o agravamiento de las alteraciones en losdistintos sistémas que conforman nuestro organismo, como también a la inversa las enfermedades sistémicas pueden facilitar la acción de la placa bacteriana al disminuir las defensas de los tejidos de soporte. El objetivo de éste trabajo es conocer la existencia de éstos factores sistémicos en cada unode los grados de evolución de la enfermedad gingivoperiodontal