Publications by authors named "Sara G Haroutunian"
Article Synopsis
- Morvan syndrome, or Morvan's fibrillary chorea, is a rare neurological condition linked to cancer, showing symptoms that affect the CNS, peripheral nerves, and autonomic functions.
- A case study highlighted an adult female who suddenly experienced chest pain, weakness, and muscle spasms, revealing positive VGKC and amphiphysin antibodies in her blood.
- The diagnosis of Morvan syndrome involves recognizing myokymia, positive VGKC antibodies, and neuropsychiatric symptoms, with this case demonstrating a unique link to amphiphysin positivity.
The Genetic Architecture of Carbon Tetrachloride-Induced Liver Fibrosis in Mice.
Cell Mol Gastroenterol Hepatol
December 2021
Article Synopsis
- The study investigates the genetic factors influencing liver fibrosis, a condition caused by chronic liver injury, using a diverse panel of mouse strains.
- Researchers induced liver damage via carbon tetrachloride injections and then analyzed liver tissues to assess the degree of fibrosis and gene expression.
- Findings revealed significant genetic variation in fibrosis susceptibility among mice, leading to the identification of key genes and pathways involved, which can guide future research on liver disease and treatments.
Heřmanský-Pudlák syndrome (HPS), a rare autosomal recessive disorder, manifests with oculocutaneous albinism and a bleeding diathesis. However, severity of disease can be variable and is typically related to the genetic subtype of HPS; HPS type 6 (HPS-6) is an uncommon subtype generally associated with mild disease. A Caucasian adult female presented with a history of severe bleeding; ophthalmologic examination indicated occult oculocutaneous albinism.
View Article and Find Full Text PDFLimited information is available regarding interstitial lung disease (ILD) in Erdheim⁻Chester disease (ECD), a rare multisystemic non-Langerhans cell histiocytosis. Sixty-two biopsy-confirmed ECD patients were divided into those with no ILD (19.5%), minimal ILD (32%), mild ILD (29%), and moderate/severe ILD (19.
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