is implicated in central nervous system, orofacial and maxillofacial anomalies.

Background: Previous studies in mouse, and zebrafish embryos show strong expression in progenitor cells of neuronal and neural crest tissues suggesting its involvement in neural crest specification. However, the role of human transcription factor activator protein 2 ( in human embryonic central nervous system (CNS), orofacial and maxillofacial development is unknown.

Methods: Through a collaborative work, exome survey was performed in families with congenital CNS, orofacial and maxillofacial anomalies.

Navigating Pompe Disease Assessment: A Comprehensive Scoping Review.

Pompe disease (PD) is a rare progressive autosomal recessive disorder resulting from the deficiency of acid alpha-glucosidase (GAA) enzyme activity. Due to its multisystemic involvement, PD leads to significant morbidity and impacts patients' quality of life. Despite the availability of approved disease-modifying treatments, the prompt diagnosis and management of PD, which are crucial for patient outcomes, still present several challenges.

Distortion of body image perception in the Prader-Willi syndrome: Relationship with the perceptual reasoning index.

Introduction: Self-perception of body image has been scarcely evaluated in people with Prader-Willi syndrome (PWS), who, in addition to intellectual disability, are often obese. Therefore, we explored whether people with PWS can accurately identify their true image and how this self-perception is impacted by their neuropsychological profile.

Methodology: This observational study included patients with PWS with regular attendance to transdisciplinary treatment at a center specialized in the management of rare diseases.

Imprints of massive black-hole binaries on neighbouring decihertz gravitational-wave sources.

The most massive black holes in our Universe form binaries at the centre of merging galaxies. The recent evidence for a gravitational-wave (GW) background from pulsar timing may constitute the first observation that these supermassive black-hole binaries (SMBHBs) merge. Yet, the most massive SMBHBs are out of reach of interferometric GW detectors and are exceedingly difficult to resolve individually with pulsar timing.

Role of projective psychological tests in patients with Prader-Willi syndrome.

Introduction: The purpose of this study was to evaluate the usefulness and relevance of projective techniques such as house-tree-person (HTP) and family in individuals with Prader-Willi syndrome (PWS), who have a limited ability to identify and verbalize emotions and express them often using behaviors.

Methods: We included individuals with genetic confirmation of PWS immersed in a regular transdisciplinary treatment in an institution dedicated to rare diseases. All individuals were evaluated using the HTP and family projective techniques.