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Sprengel deformity: What is the functional outcome of conservative treatment versus surgical correction?
Orphanet J Rare Dis
January 2025
Paediatric Orthopaedics, Deformity Reconstruction and Foot Surgery, General Orthopaedics and Tumour Orthopaedics, Muenster University Hospital, Albert-Schweitzer-Campus 1, Muenster, 48149, Germany.
Background: Sprengel deformity is a rare congenital malformation of the scapula defined by malposition during embryonic development. Affected individuals have limited range of motion of the shoulder and torticollis. Surgical reconstruction is an option to treat patients with severe deformity and functional impairment.
View Article and Find Full Text PDFBackground: Prior to the introduction of disease-modifying treatments (DMTs), children with type 1 spinal muscular atrophy (SMA) typically did not survive beyond the age of 2 years; management was mainly palliative. Novel therapies have made this a treatable condition, resulting in increased life expectancy and more time spent upright. Survival and improved function mean spinal asymmetry is a new complication with limited data on its prevalence and severity and no current guidelines on management and treatment.
View Article and Find Full Text PDFPallidal Spike-Train Variability and Randomness Are the Most Important Signatures to Classify Parkinson's Disease and Cervical Dystonia.
Eur J Neurosci
January 2025
Case Western Reserve University, Cleveland, Ohio, USA.
Movement disorders such as Parkinson's disease (PD) and cervical dystonia (CD) are associated with abnormal neuronal activity in the globus pallidus internus (GPi). Reduced firing rate and presence of spiking bursts are typical for CD, whereas PD is characterized by high frequency tonic activity. This research aims to identify the most important pallidal spiking parameters to classify these conditions.
View Article and Find Full Text PDFEngaging dystonia networks with subthalamic stimulation.
Proc Natl Acad Sci U S A
January 2025
Center for Brain Circuit Therapeutics, Department of Neurology, Brigham & Women's Hospital, Harvard Medical School, Boston, MA 02115.
Deep brain stimulation is an efficacious treatment for dystonia. While the internal pallidum serves as the primary target, recently, stimulation of the subthalamic nucleus (STN) has been investigated. However, optimal targeting within this structure and its surroundings have not been studied in depth.
View Article and Find Full Text PDFAcute suppurative thyroiditis in a child secondary to pyriform sinus fistula: From single case to systematic review.
Int J Pediatr Otorhinolaryngol
January 2025
Department of Clinical and Experimental Medicine, Section of Pediatrics and Child Neuropsychiatry, Hospital "Policlinico G. Rodolico", Catania, Italy. Electronic address:
Acute suppurative thyroiditis (AST), a rare yet potentially life-threatening infection, comprises less than 1 % of neck pathologies and requires prompt treatment. Symptoms range from neck pain and fever to dysphagia and possible abscess formation. Broad-spectrum antibiotics are the primary treatment; however, surgical drainage may be necessary for abscesses to prevent systemic infection.
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