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D1 dopamine receptor antagonists as a new therapeutic strategy to treat autistic-like behaviours in lysosomal storage disorders.
Mol Psychiatry
January 2025
Telethon Institute of Genetics and Medicine, Via Campi Flegrei 34, Pozzuoli, 80078, Naples, Italy.
Lysosomal storage disorders characterized by defective heparan sulfate (HS) degradation, such as Mucopolysaccharidosis type IIIA-D (MPS-IIIA-D), result in neurodegeneration and dementia in children. However, dementia is preceded by severe autistic-like behaviours (ALBs), presenting as hyperactivity, stereotypies, social interaction deficits, and sleep disturbances. The absence of experimental studies on ALBs' mechanisms in MPS-III has led clinicians to adopt symptomatic treatments, such as antipsychotics, which are used for non-genetic neuropsychiatric disorders.
View Article and Find Full Text PDFKDIGO 2025 clinical practice guideline for the evaluation, management, and treatment of autosomal dominant polycystic kidney disease (ADPKD): executive summary.
Kidney Int
February 2025
Institute of Physiology, University of Zurich, Zurich, Switzerland; Division of Nephrology, Cliniques universitaires Saint-Luc, UCLouvain Medical School, Brussels, Belgium. Electronic address:
The Kidney Disease: Improving Global Outcomes (KDIGO) 2025 Clinical Practice Guideline for the Evaluation, Management, and Treatment of Autosomal Dominant Polycystic Kidney Disease (ADPKD) represents the first KDIGO guideline on this subject. Its scope includes nomenclature, diagnosis, prognosis, and prevalence; kidney manifestations; chronic kidney disease (CKD) management and progression, kidney failure, and kidney replacement therapy; therapies to delay progression of kidney disease; polycystic liver disease; intracranial aneurysms and other extrarenal manifestations; lifestyle and psychosocial aspects; pregnancy and reproductive issues; pediatric issues; and approaches to the management of people with ADPKD. The guideline has been developed with patient partners, clinicians, and researchers around the world, with the goal to generate a useful resource for healthcare providers and patients by providing actionable recommendations.
View Article and Find Full Text PDFPosition statement on longitudinal cracks and fractures of teeth.
Int Endod J
January 2025
Centre for Oral, Clinical & Translational Sciences, King's College London, London, UK.
This position statement is a consensus view of an expert committee convened by the European Society of Endodontology (ESE). The statement is based on current clinical and scientific evidence as well as the collective reflective practice of the committee. The aim is to provide clinicians with evidence-based, authoritative information on the aetiology, clinical presentation, and management of cracks and fractures that typically manifest along the long axis of the crown and/or root.
View Article and Find Full Text PDFChronic traumatic encephalopathy: State-of-the-science update and narrative review.
Clin Neuropsychol
January 2025
Departments of Neurology and Anatomy & Neurobiology, Boston University Chobanian & Avedisian School of Medicine, Boston University CTE and Alzheimer's Disease Research Centers, Boston, MA, USA.
Objective: The long-recognized association of brain injury with increased risk of dementia has undergone significant refinement and more detailed study in recent decades. Chronic traumatic encephalopathy (CTE) is a specific neurodegenerative tauopathy related to prior exposure to repetitive head impacts (RHI). We aim to contextualize CTE within a historical perspective and among emerging data which highlights the scientific and conceptual evolution of CTE-related research in parallel with the broader field of neurodegenerative disease and dementia.
View Article and Find Full Text PDFPaediatric Otogenic Cerebral Venous Thrombosis: Diagnostic Approach and Therapeutic Management - A Five-Year Single-Centre Experience.
Otolaryngol Pol
January 2025
Department of Pediatric Otolaryngology, Medical University of Warsaw, Poland.
<b>Introduction:</b> Central venous thrombosis (CVT) represents a well-documented complication of acute otitis media (AOM) and acute mastoiditis (AM). Despite widespread antibiotic utilization, which has significantly reduced the incidence of severe AOM/AM complications, recent years have witnessed an increasing frequency of thrombotic complications in pediatric patients, not invariably presenting with classical neurological manifestations.<b>Aim:</b> This study aimed to investigate the potential correlation between COVID-19 infection and increased CVT incidence, while sharing therapeutic experiences, given the absence of standardized treatment protocols for otogenic CVT in pediatric populations.
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