Results 61 to 70 of about 361,175 (190)
ABSTRACT Background Idiopathic intracranial hypertension is a syndrome characterized by symptoms and signs of raised intracranial pressure without a secondary cause. It primarily affects young obese women who present with headache and papilledema. We report the clinical presentation, brain imaging findings and outcomes of patients with IIH from two ...
Bandlakazi Sukwana‐Ncemane +2 more
wiley +1 more source
Clinical and genetic landscape of epilepsies with absence seizures and single‐gene etiology
Abstract Objective To characterize the clinical, electroencephalographic, and genetic features of epilepsies featuring absence seizures within monogenic etiology, highlighting the diagnostic, treatment and prognostic implications. Methods We conducted a retrospective, multicenter study including patients with monogenic epilepsies and ...
Simona Balestrini +50 more
wiley +1 more source
Background Tentorial hypoplasia is a rare congenital condition characterized by underdevelopment or absence of the tentorium cerebelli, a dural structure separating the cerebrum from the cerebellum. It is often detected incidentally on computed tomography (CT) or magnetic resonance imaging (MRI) and may be associated with conditions such as Dandy ...
Husam Hamshary +10 more
wiley +1 more source
Arnold Chiari Type I malformation presenting as a trigeminal neuralgia: case report.
OBJECTIVE AND IMPORTANCE: Arnold Chiari Type I malformation usually presents as headache, arm numbness, dysesthesia, upper weakness, or gait difficulty. We report a case of Chiari malformation presenting as a left trigeminal neuralgia.
Oulad Ben Taib, Nordeyn +3 more
core +1 more source
Anesthesia implications for Arnold Chiari Type I Malformation Parturients [PDF]
Arnold Chiari type I malformation (ACM-I) is the most prevalent Chiari defect in the adult population. This malformation is associated with decreased cerebral spinal fluid (CSF) flow from the fourth ventricle.
Sanchez, Dessiarae, Herbinger, Lisa
core +1 more source
Effects of Osteopathic Manipulative Treatment in a 3‐Year‐Old With Pitt‐Hopkins Syndrome
Pitt‐Hopkins Syndrome (PTHS) is a rare neurodevelopmental disorder caused by a mutation in the transcription factor 4 gene resulting in defective regulation of the enteric nervous system. With no cure, current management emphasizes the treatment of the associated comorbidities to improve day‐to‐day quality of life.
Vaibhav Duggal +4 more
wiley +1 more source
ABSTRACT Spasmodic dysphonia is a laryngeal dystonia that can present as adductor, abductor, or mixed types, with or without tremor. The etiology is not understood fully. Comprehensive evaluation is required to establish the diagnosis. Treatments include voice therapy, medications, botulinum toxin injection, laryngeal surgery, deep brain stimulation ...
Aaron J. Jaworek, Robert T. Sataloff
wiley +1 more source
Epigenetic Clock Analysis of Sex Chromosome Aneuploidies
Next‐generation epigenetic clocks indicate lower age acceleration and slower pace of aging in 47,XXY than 46,XX, 46,XY, and 47,XYY. A first‐generation clock (Skin & Blood) indicates higher age acceleration in 47,XXY and 47,XYY than 46,XY, while higher naïve CD8+ T in 47,XXY than both 46,XY and 46,XX suggests reduced immunosenescence.
Joshua Zhang +7 more
wiley +1 more source
Prognosis of Dysphagia in Pediatric Patients With Vocal Fold Immobility
Abstract Objective This study aims to determine the incidence and prognosis of dysphagia in pediatric patients with true vocal fold (TVF) immobility or hypomobility. Study Design A single‐center retrospective chart review. Setting A single‐institution tertiary‐care center.
Rachel Georgopoulos +2 more
wiley +1 more source
This report described 27 novel subject with CDK13‐related disorders. Collecting the clinical and radiological data, we better define the phenotypic spectrum of this condition and we suggest a comprehensive clinical management. ABSTRACT In 2016, Sifrim and colleagues described the first group of patients carrying heterozygous pathogenic variants in ...
Gianluca Contrò +57 more
wiley +1 more source

