Results 31 to 40 of about 4,879,457 (188)

A child with hypertension and ascitis

Journal of Dr. NTR University of Health Sciences, 2016
Caroli disease is a rare disorder characterized by congenital dilatation of the intrahepatic biliary tree and may be associated with polycystic kidney disease.
Ira Shah, Sushmita Bhatnagar
doaj   +1 more source

A rare missense variant in APC interrupts splicing and causes AFAP in two Danish families

Hereditary Cancer in Clinical Practice, 2020
Background We report the first case of a missense variant in the APC gene that interrupts splicing by creating a new cryptic acceptor site. The variant, c.289G>A, p.(Gly97Arg), is located in exon 3, and qualitative and semi-quantitative RNA splicing ...
Malene Djursby, Karin Wadt, Jane Hübertz Frederiksen, Majbritt Busk Madsen, Lukas Adrian Berchtold, Jane Preuss Hasselby, Gro Linno Willemoe, Thomas v. O. Hansen, Anne-Marie Gerdes   +8 more
doaj   +1 more source

Caroli′s syndrome in a post renal transplant patient: Case report and review of the literature

The Saudi Journal of Gastroenterology, 2012
Caroli′s syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and
Muhammad Z Bawany, Osama Alaradi, Ali Nawras   +2 more
doaj   +1 more source

Observing Huntington's disease: the European Huntington's Disease Network's REGISTRY. [PDF]

, 2010
The unparalleled collection of clinical data and biomaterials within the EHDN's REGISTRY can expedite the search for disease modifiers (genetic and environmental) of age at onset and disease progression that could be harnessed for the development of ...
Handley, Olivia J, Landwehrmeyer, G Bernhard, Aileen K Ho, Bisson, Jonathan Ian, Schwenke C, David Craufurd, Dunnett, Stephen B., Handley, Olivia, Investigators of the European Huntington's Disease Network, The, DI MARIA, EMILIO, Craufurd D, Dunnett, SB, Carsten Schwenke, the investigators of the European Huntington's Disease Network, Craufurd, David, Edward Wild, Landwehrmeyer, GB, Busse, Monica, Rosser, Anne Elizabeth, Olivia J Handley, Romano Silvia., Tabrizi SJ, Ho, Aileen K., Wild, E, Landwehrmeyer GB, Craufurd, D, Tabrizi, SJ, Tabrizi, Sarah J., Handley, OJ, Rickards, Hugh, Dunnett, Stephen, Ho, Aileen K, Orth, Michael, Ho, AK, Wild, Edward, Stephen B. Dunnett, Sarah J Tabrizi, Wild, EJ, Landwehrmeyer, G. Bernhard, Naji, Jenny, Landwehrmeyer, G. Bernhard, Wild E, Investigators of the European Huntington's Disease Network, Handley, Olivia J., Orth, M, Ellison-Rose, Lynda, Tabrizi, Sarah J, Price, Kathleen, Ho AK, ABBRUZZESE, GIOVANNI, Schwenke, C, Ho, A, Orth M, Handley OJ, Schwenke, Carsten, Dunnett SB, Dunnett, Stephen B, Michael Orth, G. Bernhard Landwehrmeyer   +59 more
core   +1 more source

A Unique Case of Caroli Disease in Kenya's Medical Landscape. [PDF]

Am J Case Rep
Background: If a young patient presents with fever, abdominal pain, jaundice and significant imaging abnormalities, especially dilation of the biliary system, it is usually due to obstruction from stones or strictures. However, on very rare occasions, it
Lengoiboni T, Kailani L, Bikoro MK, Mudeheri MM.   +3 more
europepmc   +2 more sources

More than simple hepatic cysts [PDF]

Romanian Journal of Military Medicine, 2016
Caroli diseaseis a rare congenital disorder that classically causes saccular dilatation of the bile ducts. The complications of Caroli include choledochal cysts with recurrent cholangitis, abscess formation, septicaemia, intrahepatic lithiasis and ...
Daniela Tabacelia, Mădălina Ilie, Alina Constantin, Anca Macovei Oprescu, Gabriel Constantinescu   +4 more
doaj  

Autosomal Recessive Polycystic Kidney Disease in a Child Complicated by Autoimmune Hemolytic Anemia: A Case Report [PDF]

Pediatric Sciences Journal (Egypt), 2023
Autosomal recessive polycystic kidney disease (ARPKD) is a rare genetic disorder that presents as an isolated polycystic renal disease in childhood, or associated with congenital hepatic fibrosis and/or Caroli disease.
Magd A. Kotb , Hend Abd El Baky , Shaimaa Sayed , Mohammed Al Komy, Marwa Onsy , Aya Aly , Andrew Tamer , Esraa Mohamed   +7 more
doaj   +1 more source

Caroli Disease: A Narrative Review of Clinical Spectrum Pathogenesis, Diagnostic Advances, and Management Strategies [PDF]

Journal of Clinical and Diagnostic Research
Caroli disease is a rare congenital disease of segmental and non obstructive dilatation of intrahepatic bile ducts. This can be simple Caroli disease or Caroli syndrome in combination with congenital hepatic fibrosis and frequent Autosomal Recessive ...
Aniruddha Patel, Ranjana Lanjewar, Imran Ali Khan, Riddhi Thakor, Bhagyesh Sapkale   +4 more
doaj   +1 more source

Rare variants in PKHD1 associated with Caroli syndrome: Two case reports

Molecular Genetics & Genomic Medicine, 2022
Background Caroli disease (CD, OMIM #600643) is a rare autosomal recessive disorder characterized by polycystic segmental dilatation of the intrahepatic bile ducts and extreme variability in age of onset and clinical manifestations.
Carola Giacobbe, Fabiola Di Dato, Daniela Palma, Michele Amitrano, Raffaele Iorio, Giuliana Fortunato   +5 more
doaj   +1 more source

Pitfalls and fatal complications after iterative endoscopic retrograde cholangiopancreatography or percutaneous transhepatic cholangiography management of biliary tract cysts. When to do open surgery (cyst resection; hepaticojejunostomy) or liver transplant?

Archives of Clinical and Experimental Surgery, 2016
Biliary tract cysts are a group of rare congenital diseases that have been classified by Todani in 8 types. Hepaticojejunostomy has been the preferred intervention for Type I and IV biliary cysts.
Andrea Cariati, Giuliano Bottino, Pietro Diviacco, Antonella De Negri, Eva Moraglia, Valerio Belgrano, Irene Leale, Elisa Piromalli, Rosario Fornaro, Mauro Nahun, Enzo Andorno.   +10 more
doaj   +1 more source