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| http://dx.doi.org/10.1073/pnas.1.3.131 | DOI Listing |
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A PARK7 Mutation-Induced Early-Onset Parkinson's Disease in a Moroccan Family: Expanding the Geographic Spectrum.
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January 2025
Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Hôpital de la Salpêtrière, INSERM, CNRS, Paris, France.
Background: Parkinson's disease (PD) is a progressive neurodegenerative disorder characterized by motor and nonmotor symptoms, with a significant genetic component. Early-onset Parkinson's disease (EOPD), manifesting before age 45, is often linked to mutations in genes such as PARK2, PINK1, and PARK7, the latter coding for the protein DJ-1.
Objective: We present the first reported cases of EOPD carrying a previously undescribed homozygous PARK7 mutation, p.
Impact of a Structured Social Skills Training Program on Adolescents and Young Adults with Level 1 Autism.
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January 2025
Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona, 37126 Verona, Italy.
Background/objectives: Level 1 autism spectrum disorder (ASD) is a neurodevelopmental condition characterised by challenges in social and communication skills. Despite these difficulties, individuals with level 1 ASD often exhibit average intelligence and typical language development. Improving socialisation skills in this population requires tailored approaches that address their specific needs and include targeted strategies.
View Article and Find Full Text PDFAssessment of complications in third molar surgery performed by resident surgeons: A comprehensive analysis.
Surg Pract Sci
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Faculty of Medicine, University of Coimbra, Coimbra 3004-561, Portugal.
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View Article and Find Full Text PDFExploring Goal Attainment Scaling Among Occupational Therapy Students: A Retrospective Descriptive Analysis.
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Department of Occupational Therapy Education, University of Kansas Medical Center, Kansas City, Kansas, USA.
This study explored the administration of goal attainment scaling (GAS) by entry-level occupational therapy (OT) students, examining their competency following minimal training. While GAS is valuable for measuring progress toward individualized client goals, its implementation requires specific skills and training that may challenge entry-level practitioners. Using retrospective data from a study of sensory garments' effects on children with autism spectrum disorder (ASD), we analyzed GAS administration by five entry-level OT students.
View Article and Find Full Text PDFPosterior Reversible Encephalopathy Syndrome in the Context of McCune-Albright Syndrome: A Case Report.
Cureus
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Department of Neurology, 417 Army Share Fund Hospital, Athens, GRC.
Posterior reversible encephalopathy syndrome (PRES) is a clinical manifestation of various underlying causes, characterized by the combination of clinical and imaging findings associated with the posterior cerebral areas and relating to arterial hypertension and endothelial dysfunction. No association was made so far between PRES and McCune-Albright syndrome (MAS), a rare genetic disorder resulting in fibrous dysplasia. A 33-year-old female with MAS was presented to the emergency department of the 417 Army Share Fund Hospital in Athens (Greece) after seizure activity with two episodes of ocular upward deviation and transient facial palsy, each lasting a few minutes, followed by a postictal phase.
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