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The Therapeutic Potential of Oral Everolimus for Facial Angiofibromas in Pediatric Tuberous Sclerosis Complex: A Case-Based Analysis of Efficacy.
Diseases
December 2024
Department of Pediatrics, Dokkyo Medical University, Tochigi 321-0293, Japan.
Background: Tuberous sclerosis complex (TSC) is an autosomal dominant genetic disorder characterized by mutations in the TSC1 and TSC2 genes, leading to the dysregulation of the mammalian target of rapamycin (mTOR) pathway. This dysregulation results in the development of benign tumors across multiple organ systems and poses significant neurodevelopmental challenges. The clinical manifestations of TSC vary widely and include subependymal giant cell astrocytomas (SEGAs), renal angiomyolipomas (AMLs), facial angiofibromas (FAs), and neuropsychiatric conditions such as autism spectrum disorder (ASD).
View Article and Find Full Text PDFVertical Transposition of the Horizontal Rectus Muscles Combined With the Modified Kestenbaum Procedure for Correcting Abnormal Head Posture Due to Infantile Nystagmus Syndrome.
Cureus
October 2024
Department of Ophthalmology, Kochi Health Sciences Center, Kochi, JPN.
We report a case of an infantile nystagmus syndrome (INS) with abnormal head posture (AHP) of head tilt and face turn treated with the modified Kestenbaum procedure and vertical transposition of the horizontal rectus muscles. A 23-year-old male patient with a history of eye shaking since early infancy presented to our hospital for correction of AHP. He had right-beating jerk nystagmus in both eyes, 15° right head tilt, and 25° right face turn.
View Article and Find Full Text PDFDiagnosis and Treatment of Infantile Hemangioma from the Primary Care Paediatricians to the Specialist: A Narrative Review.
Children (Basel)
November 2024
Pediatric Unit, Department of Surgical Sciences, Destiny, Gynecology and Pediatrics, University of Verona, 37126 Verona, Italy.
Infantile haemangiomas (IHs) affect 3-10% of infants, 10% of whom need topical or systemic beta-blocker therapy. Propranolol is the first choice for IHs with a high risk of complications. Since more than half of IHs leave a permanent mark, to reduce outcomes, it is essential to start oral propranolol (2-3 mg/kg/day in 2 doses/day) within the 5th month of life (i.
View Article and Find Full Text PDFMultidisciplinary Treatment of Hemifacial Microsomia: Several Clinical Cases.
Clin Pract
November 2024
Department of Surgery, Faculty of Medicine, University of Salamanca, Alfonso X El Sabio Avenue s/n, 37007 Salamanca, Spain.
Hemifacial microsomia is the second most common congenital anomaly of the craniofacial region. Hemifacial microsomia is characterised by unilateral hypoplasia of the ear. Treatment of this condition depends on the severity of the lesion.
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