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AMPylation is a post-translational modification involving the transfer of adenosine monophosphate (AMP) from adenosine triphosphate (ATP) to target proteins, serving as a critical regulatory mechanism in cellular functions. This study aimed to expand the phenotypic spectrum associated with mutations in the FICD gene, which encodes an adenyltransferase enzyme involved in both AMPylation and deAMPylation. A clinical evaluation was conducted on a patient presenting with a complex clinical profile.
View Article and Find Full Text PDFAnalyzing the cyberbullying phenomenon on social media from the perspective of students.
Front Psychol
December 2024
Faculty of Sociology and Communication, Transilvania University of Brasov, Brașov, Romania.
Introduction: With the significant increase in the number of social media users, the degree of cyberbullying has also increased in a directly proportional manner. Cyberbullying manifests itself in the commission of psychological abuses, teenagers being the most vulnerable.
Methods: The purpose of our paper was to analyze how the phenomenon of cyberbullying manifests in terms of frequency on social media platforms, while taking into account factors such as gender, and elements related to the behavior/reactions of witnesses and victims.
Background: A substantial proportion of patients within regular Mental Health Services have a mild intellectual disability (MID) or borderline intellectual functioning (BIF). Previous research has shown that psychiatrists are ambivalent about their own knowledge and skills in providing care to these patients.
Aim: To gain insight into factors that play a role in how psychiatrists experience the provision of care to patients with MID/BIF and comorbid psychiatric disorders.
Introduction: Hippocampal hyperactivity is a hallmark of prodromal Alzheimer's disease (AD) that predicts progression in patients with amnestic mild cognitive impairment (aMCI). AGB101 is an extended-release formulation of levetiracetam in the dose range previously demonstrated to normalize hippocampal activity and improve cognitive performance in aMCI. The HOPE4MCI study was a 78-week trial to assess the progression of MCI due to AD.
View Article and Find Full Text PDFDevelopment and longitudinal neurocognitive functioning in mucopolysaccharidosis type IIIC: a case study.
J Appl Genet
December 2024
Psychological Counselling for Rare Genetic Diseases, Institute of Psychology, Faculty of Social Science, University of Gdansk, Bażynskiego, 4, 80-309, Gdańsk, Poland.
This case study presents a comprehensive analysis of the neurocognitive, medical, and developmental functioning of a 9-year-old girl diagnosed with mucopolysaccharidosis type IIIC (MPS IIIC). Genetic testing revealed a homozygous pathogenic variant of the HGSNAT gene (c.1872C > A), typically associated with severe neurodegeneration.
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