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Related Concept Videos

Barrett Esophagus-II: Clinical Manifestations and Management01:21

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Individuals with Barrett's esophagus are often asymptomatic, but they may experience symptoms commonly associated with GERD, such as heartburn and acid regurgitation. Additional symptoms can include difficulty swallowing, chest pain, unintentional weight loss, blood in the stool (which may appear black, tarry, or bloody), and episodes of vomiting.
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Glaucoma: Overview01:25

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Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
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Gastroesophageal Reflux Disease II: Clinical Features and Management01:29

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Gastroesophageal reflux disease, or GERD, is a persistent medical condition that affects many individuals worldwide. Its clinical manifestations can vary greatly, making diagnosis and management challenging for healthcare professionals. The following is a comprehensive overview of the clinical manifestations, assessment, and management strategies for GERD.
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Sturge-Weber Syndrome: A Review.

E Higueros1, E Roe1, E Granell2

  • 1Servicio de Dermatología, Hospital Santa Creu i Sant Pau, Barcelona, España.

Actas Dermo-Sifiliograficas
|January 28, 2017
PubMed
Summary
This summary is machine-generated.

Sturge-Weber syndrome is a rare congenital disorder affecting newborns, characterized by facial port-wine stains, brain abnormalities, and glaucoma. Early diagnosis and treatment are crucial for managing neurological symptoms like seizures and improving patient outcomes.

Keywords:
Angiomatosis leptomeníngeaLeptomeningeal angiomatosisMancha en vino de OportoPort-wine stainSturge-Weber syndromeSíndrome de Sturge-Weber

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Area of Science:

  • Neuroscience
  • Genetics
  • Dermatology

Background:

  • Sturge-Weber syndrome (SWS) is a sporadic congenital neurocutaneous disorder.
  • It arises from a somatic activating mutation in the GNAQ gene.
  • SWS affects approximately 1 in 20,000 to 50,000 newborns.

Purpose of the Study:

  • To summarize the key characteristics, diagnosis, and management of Sturge-Weber syndrome.
  • To highlight the genetic basis and common clinical manifestations of SWS.
  • To outline standard treatment protocols and prognostic factors.

Main Methods:

  • Review of existing literature on Sturge-Weber syndrome.
  • Analysis of diagnostic criteria including clinical presentation and neuroimaging.
  • Summary of current therapeutic approaches and their efficacy.

Main Results:

  • SWS presents with a facial port-wine stain, leptomeningeal angiomatosis, and glaucoma.
  • Seizures are the most frequent neurological symptom, appearing early in infancy.
  • Neuroimaging confirms leptomeningeal angiomatosis, aiding in diagnosis.

Conclusions:

  • Standard treatments involve laser therapy for port-wine stains, anticonvulsants for seizures, and glaucoma management.
  • Prognosis is significantly influenced by the extent of leptomeningeal involvement and glaucoma severity.
  • Multidisciplinary care is essential for optimizing outcomes in Sturge-Weber syndrome patients.