Publications by authors named "A R Garofalo"
Background: Ceruloplasmin (Cp) is the most important serum copper transport protein playing a key role in the binding of iron to transferrin. It is a positive acute-phase response protein and the first-level diagnostic marker for Wilson disease and aceruloplasminemia. However, standardization of Cp measurement has not been successful, and assay specific reference levels of Cp are required.
View Article and Find Full Text PDFAstronomy is entering an unprecedented era of big-data science, driven by missions like the ESA's Gaia telescope, which aims to map the Milky Way in three dimensions. Gaia's vast dataset presents a monumental challenge for traditional analysis methods. The sheer scale of this data exceeds the capabilities of manual exploration, necessitating the utilization of advanced computational techniques.
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- Alagille syndrome is an autosomal dominant disorder characterized by a lack of intrahepatic bile ducts, leading to symptoms like chronic cholestasis and xanthomas, along with potential heart, skeletal, and other organ issues.
- Most cases are linked to mutations in the JAG1 gene, with a diagnosis made through genetic testing; the condition occurs in roughly 1 in 30,000 to 50,000 individuals.
- Treatment varies based on symptoms, and severe cases may require liver transplantation; a specific case highlighted includes main bile duct hypoplasia, cholestasis, and associated kidney and vertebral abnormalities.
The Spigelian hernia is a abdominal wall hernia that originates from a discontinuity of the Spigelian fascia located lateral to the rectus abdominis muscle. It can be acquired in adults or congenital in newborns. In very rare cases in male it can be associated with cryptorchidism, in which case it is known as "Spigellian-Cryptorchidism Syndrome".
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