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Related Concept Videos

Acute Pharyngitis01:30

Acute Pharyngitis

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Acute pharyngitis is the inflammation of the back of the throat (pharynx), commonly resulting in a sore throat. It is a frequently encountered condition that prompts individuals to seek medical advice.
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Chronic Pharyngitis01:23

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Chronic pharyngitis refers to persistent inflammation of the pharyngial mucosa.
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Phasors01:12

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Phasors are a powerful mathematical tool used to analyze alternating current (AC) circuits. They provide a complex number representation of sinusoids, with the magnitude of the phasor equating to the amplitude of the sinusoid and the angle of the phasor representing the phase measured from the positive x-axis.
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Prosopagnosia01:24

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Prosopagnosia, also known as face blindness, is the inability to recognize faces. In severe cases, individuals with prosopagnosia may not recognize close family members, including parents and spouses, by their faces. For instance, someone with prosopagnosia might walk past their child in a crowd, only realizing their mistake upon noticing their child's distinctive backpack or favorite jacket. Prosopagnosia specifically impairs facial recognition, while the recognition of other objects or...
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Pleiotropy01:33

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Pleiotropy is the phenomenon in which a single gene impacts multiple, seemingly unrelated phenotypic traits. For example, defects in the SOX10 gene cause Waardenburg Syndrome Type 4, or WS4, which can cause defects in pigmentation, hearing impairments, and an absence of intestinal contractions necessary for elimination. This diversity of phenotypes results from the expression pattern of SOX10 in early embryonic and fetal development. SOX10 is found in neural crest cells that form melanocytes,...
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Cystic Fibrosis: Pathogenesis01:23

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Cystic fibrosis (CF), an autosomal recessive disorder, significantly affects the function of exocrine glands. This genetically inherited disease is characterized by the production of thick and sticky mucus, which can severely affect various organs and systems in the body.
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Updated: Dec 30, 2025

Iris Fixation via External Pentagram Suturing
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PHACE Syndrome: A Rare Case.

Ceylan Altintas Taslicay1, Elmire Dervisoglu1, Ercument Ciftci1

  • 1Department of Radiology, Kocaeli University Faculty of Medicine, Kocaeli, Turkey.

Journal of Pediatric Genetics
|January 25, 2020
PubMed
Summary
This summary is machine-generated.

PHACE syndrome, a rare neurocutaneous disorder, presents risks for childhood stroke. Early cranial MRI and MRA are crucial for diagnosing PHACE syndrome and assessing potential complications in infants.

Keywords:
PHACE syndromechildhood strokemagnetic resonance angiography

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Area of Science:

  • Neurocutaneous disorders
  • Pediatric neurology
  • Vascular anomalies

Background:

  • PHACE syndrome is a rare neurocutaneous vascular disorder.
  • It involves posterior fossa malformations, hemangiomas, arterial anomalies, and cardiac and eye abnormalities.
  • Long-term outcomes and stroke risk in PHACE syndrome patients are not fully understood.

Observation:

  • Infants with segmental craniofacial hemangiomas require thorough investigation.
  • Cranial magnetic resonance imaging (MRI) and magnetic resonance angiography (MRA) are recommended.
  • This includes imaging of the cerebral and cervical arteries.

Findings:

  • The study presents brain MRI and MRA findings.
  • The case involves a 5-year-old female patient diagnosed with PHACE syndrome.
  • Radiological findings are key to diagnosis and complication assessment.

Implications:

  • Radiologists play a vital role in diagnosing PHACE syndrome.
  • Early detection through MRI and MRA can help manage potential complications like stroke.
  • Understanding long-term outcomes is essential for patient care.