Význam endomysiálních protilátek v diagnostice chorob zažívacího traktu

Manuscrito presentado al certamen de Obras de Poesía de 1832 cuyo tema era "El cerco de Zamora por el Rey Don Sancho", con el lema en h. 2r.: "Vidit hostili grege campos repleri patria, fulgentes procul armis catervas-- igne flagrantes trabes Fumare-- Fratres que in se ruentes". En h. 2r. consta: "Nº 12"De un generoso Pueblo el valor, canto / Que fiel á su legitima Señora.... ...Inquieto grita con despecho y saña: / "Zamora es signo de la union de España"Fecha en h. 2r: "Diciemb. 1831"Bifolios encartados y cosidos; en bl. h. 1, 2v., 25v. y 26-28

Alagille Syndrome Mimicking Biliary Atresia in Early Infancy.

Alagille syndrome may mimic biliary atresia in early infancy. Since mutations in JAG1 typical for Alagille syndrome type 1 have also been found in biliary atresia, we aimed to identify JAG1 mutations in newborns with proven biliary atresia (n = 72). Five biliary atresia patients with cholestasis, one additional characteristic feature of Alagille syndrome and ambiguous liver histology were single heterozygotes for nonsense or frameshift mutations in JAG1. No mutations were found in the remaining 67 patients. All "biliary atresia" carriers of JAG1 null mutations developed typical Alagille syndrome at the age of three years. Our data do not support association of biliary atresia with JAG1 mutations, at least in Czech patients. Rapid testing for JAG1 mutations could prevent misdiagnosis of Alagille syndrome in early infancy and improve their outcome

Mutations in <i>JAG1</i> found in patients with biliary atresia and Alagille syndrome.

<p>* siblings;</p><p>AGS, Alagille syndrome; BA, biliary atresia; novel mutations are in <b>bold</b>.</p><p>Mutations in <i>JAG1</i> found in patients with biliary atresia and Alagille syndrome.</p

Clinical features present in carriers of <i>JAG1</i> mutations at the time of hospitalization for neonatal cholestasis and at 3 years of age.

<p>* siblings;</p><p>ERCP, endoscopic retrograde cholangiopancreatography; BA, biliary atresia; BA type 3 –gallbladder, cystic duct and common bile duct are patent; BA type 4 –atresia of all the extrahepatic bile ducts; clinical features were present (+) or missing (-),</p><p>^# indicates clinical features not present at the age of 2 months;</p><p>AGS criteria indicate the number of major clinical features (diagnostic criteria) of Alagille syndrome present at the age of 2 months and 3 years, respectively.</p><p>Clinical features present in carriers of <i>JAG1</i> mutations at the time of hospitalization for neonatal cholestasis and at 3 years of age.</p

Schematic representation of the Jagged1 protein and spliced <i>JAG1</i> mRNA with mutations found in our patients.

<p>Schematic representation of the Jagged1 protein and spliced <i>JAG1</i> mRNA with mutations found in our patients.</p