Association of novel TMEM67 variants with mild phenotypes of high gamma‐glutamyl transpeptidase cholestasis and congenital hepatic fibrosis
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Cellular Physiology"
DOI: 10.1002/jcp.30788
Abstract: TMEM67 (mecklin or MKS3) locates in the transition zone of cilia. Dysfunction of TMEM67 disrupts cilia‐related signaling and leads to developmental defects of multiple organs in humans. Typical autosomal recessive TMEM67 defects cause partial overlapping… read more here.
Keywords: cholestasis; tmem67 variants; tmem67; glutamyl transpeptidase ... See more keywords
Elderly onset congenital hepatic fibrosis with portal hypertension diagnosed after recurrent cholangitis: a case report
Sign Up to like & getrecommendations! Published in 2022 at "Clinical Journal of Gastroenterology"
DOI: 10.1007/s12328-022-01620-w
Abstract: Congenital hepatic fibrosis is a rare autosomal recessive disorder caused by ductal plate malformation that can manifest as hepatic fibrosis alone or as a component in various fibropolycystic diseases including renal involvement. It is often… read more here.
Keywords: hepatic fibrosis; congenital hepatic; portal hypertension; fibrosis ... See more keywords
Prenatal imaging of congenital hepatic tumors: a report of three cases.
Sign Up to like & getrecommendations! Published in 2017 at "Clinical imaging"
DOI: 10.1016/j.clinimag.2016.10.003
Abstract: The generalization of screening pregnancy ultrasound (US) studies has increased the detection of congenital tumors, including hepatic masses. In these cases, prenatal MRI is often used as a complementary imaging study. We present three cases… read more here.
Keywords: hepatic tumors; cases prenatal; prenatal imaging; imaging congenital ... See more keywords
Clinical and Pathological Features of Congenital Hepatic Hemangioma in Children: A Retrospective Analysis
Sign Up to like & getrecommendations! Published in 2022 at "Fetal and Pediatric Pathology"
DOI: 10.1080/15513815.2022.2114300
Abstract: Abstract Objective: We reviewed our experience with congenital hepatic hemangiomas (CHH) to assess the effectiveness of our treatment strategies. Methods: Clinical and pathologic features of children with CHH were reviewed. Results: Twenty-two cases of CHH… read more here.
Keywords: hepatic hemangioma; pathological features; clinical pathological; congenital hepatic ... See more keywords
Successful use of propranolol for congenital hepatic hemangioma with Kasabach–Merritt phenomenon
Sign Up to like & getrecommendations! Published in 2017 at "Pediatrics International"
DOI: 10.1111/ped.13244
Abstract: 1 Fujii K, Sugama J, Okuwa M, Sanada H, Mizokami Y. Incidence and risk factors of pressure ulcers in seven neonatal intensive care units in Japan: a multisite prospective cohort study. Int. Wound J. 2010;… read more here.
Keywords: hepatic hemangioma; propranolol congenital; successful use; use propranolol ... See more keywords
Congenital hepatic fibrosis and its mimics: a clinicopathologic study of 19 cases at a single institution
Sign Up to like & getrecommendations! Published in 2021 at "Diagnostic Pathology"
DOI: 10.1186/s13000-021-01142-y
Abstract: Background Congenital hepatic fibrosis (CHF) is a rare inherited form of ductal plate malformation associated with polycystic kidney disease. The diagnosis requires histopathologic confirmation, but can be challenging to distinguish from other undefined fibrocystic liver… read more here.
Keywords: mimics clinicopathologic; chf; hepatic fibrosis; congenital hepatic ... See more keywords