: Specific Learning Disorder (SLD) is a complex neurobiological disorder characterized by a persistent difficult in reading (dyslexia), written expression (dysgraphia), and mathematics (dyscalculia). The hereditary and genetic component is one of the underlying causes of SLD, but the relationship between genes and the environment should be considered. Several genetic studies were performed in different populations to identify causative genes. : Here, we show the analysis of 9 multiplex families with at least 2 individuals diagnosed with SLD per family, with a total of 37 persons, 21 of whom are young subjects with SLD, by means of Next-Generation Sequencing (NGS) to identify possible causative mutations in a panel of 15 candidate genes: , , , , , , , , , , , , , , and . We detected, in eight families out nine, SNP variants in the , , , and genes, even if in silico analysis did not show any causative effect on this behavioral condition. In all cases, the mutation was transmitted by one of the two parents, thus excluding the case of de novo mutation. Moreover, the parent carrying the allelic variant transmitted to the children, in six out of seven families, reports language difficulties. : Although the present results cannot be considered conclusive due to the limited sample size, the identification of genetic variants in the above genes can provide input for further research on the same, as well as on other genes/mutations, to better understand the genetic basis of this disorder, and from this perspective, to better understand also the neuropsychological and social aspects connected to this disorder, which affects an increasing number of young people.
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http://dx.doi.org/10.3390/medicina59081503 | DOI Listing |
Int J Integr Care
December 2024
Julius Global Health, Julius Center for Health Sciences and Primary Care, University Medical Center Utrecht, Utrecht University, Utrecht, Netherlands.
Introduction: The SCUBY project aimed to provide knowledge on the scaling-up of an Integrated Care Package (ICP) for type 2 diabetes and hypertension across three distinct health systems (Cambodia, Slovenia, and Belgium). Here, we analyse the different elements of the country-specific scale-up roadmaps to identify similarities and differences, and share lessons learned.
Methods: Thematic analysis was used to derive crucial roadmap elements from key SCUBY documents (n = 20), including policy briefs, interim reports, research outputs, and consortium meeting notes.
Front Oncol
December 2024
Department of Urology, The Affiliated Hospital of Qingdao University, Qingdao, China.
Objective: To evaluate the efficacy of a machine learning model for predicting prostate-specific antigen (PSA) persistence after radical prostatectomy (RP).
Methods: Data from 470 patients who underwent RP at the Affiliated Hospital of Qingdao University from January 2018 to June 2021 were retrospectively analyzed. Ten risk factors, including age, body mass index (BMI), preoperative PSA, biopsy Gleason score, total prostate specific antigen density (PSAD), clinical tumor stage, clinical lymph node status, seminal vesicle invasion, capsular invasion and positive surgical margin, were included in the analysis.
GMS J Med Educ
November 2024
SIWF Schweizerisches Institut für ärztliche Weiter- und Fortbildung, Bern, Switzerland.
Objective: Medical training in Switzerland is currently undergoing change. The postgraduate education curricula of all medical specialties are being converted to competency-based medical education (CBME). Entrustable Professional Activities (EPA) are used to assess competencies.
View Article and Find Full Text PDFGMS J Med Educ
November 2024
University Children's Hospital Zurich, Eleonorenstiftung, Zurich, Switzerland.
Introduction: The competency-based catalogue of learning objectives "Principal Relevant Objectives and Framework for Integrative Learning and Education in Switzerland" (PROFILES) based on Entrustable Professional Activities (EPAs) was newly introduced in 2018 in undergraduate medical education in Switzerland. Clerkships provide opportunities for students to train clinical skills and competencies within the curriculum. This study aims to assess the students' experiences during paediatric clerkships and whether they achieve the expected competency level of certain EPAs by the end of their training.
View Article and Find Full Text PDFGMS J Med Educ
November 2024
University Hospital Würzburg, Department of General, Visceral, Transplant, Vascular and Pediatric Surgery, Würzburg, Germany.
Aim: During the COVID-19 pandemic, social restrictions significantly impacted post-graduate training in pediatric surgery. This paper describes the implementation and continuation of a German-language, online training program for pediatric surgery residents, named "KiWI" (Kinderchirurgische Weiterbildung im Internet), which was established during the period of social distancing.
Method: "KiWI" was designed as a monthly, post-graduate online seminar course that combined practical relevance with theoretical knowledge.
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