Database : MEDLINE
Search on : Caroli and Disease [Words]
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[PMID]: 26385851
[Au] Autor:Courcet JB; Minello A; Prieur F; Morisse L; Phelip JM; Beurdeley A; Meynard D; Massenet D; Lacassin F; Duffourd Y; Gigot N; St-Onge J; Hillon P; Vanlemmens C; Mousson C; Cerceuil JP; Guiu B; Thevenon J; Thauvin-Robinet C; Jacquemin E; Rivière JB; Michel-Calemard L; Faivre L
[Ad] Address:Service de p, é, diatrie 1 et de génétique médicale, Centre Hospitalo-Universitaire, Dijon, France.
[Ti] Title:Compound heterozygous PKHD1 variants cause a wide spectrum of ductal plate malformations.
[So] Source:Am J Med Genet A;167A(12):3046-53, 2015 Dec.
[Is] ISSN:1552-4833
[Cp] Country of publication:United States
[La] Language:ENG
[Ab] Abstract:Ductal plate malformations (DPM) present with a wide phenotypic spectrum comprising Von Meyenburg complexes (VMC), Caroli disease (CD), Caroli syndrome (CS), and autosomal recessive polycystic kidney disease (ARPKD). Variants in PKHD1 are responsible for ARPKD and CS with a high inter- and intra-familial phenotypic variability. Rare familial cases of CD had been reported and exceptional cases of CD are associated with PKHD1 variants. In a family of three siblings presenting with a wide spectrum of severity of DPM, we performed whole exome sequencing and identified two PKHD1 compound heterozygous variants (c.10444G>A; p.Arg3482Cys and c.5521C>T; p.Glu1841Lys), segregating with the symptoms. Two compound heterozygous PKHD1 variants, including one hypomorphic variant, were identified in two other familial cases of DPM with at least one patient presenting with CD. This report widens the phenotypic variability of PKHD1 variants to VMC, and others hepatic bile ducts malformations with inconstant renal phenotype in adults and highlights the important intra-familial phenotypic variability. It also showed that PKHD1 might be a major gene for CD. This work adds an example of the contribution of exome sequencing, not only in the discovery of new genes but also in expanding the phenotypic spectrum of well-known disease-associated genes, using reverse phenotyping.
[Mh] MeSH terms primary: Bile Duct Diseases/genetics
Bile Ducts, Intrahepatic/abnormalities
Mutation/genetics
Polycystic Kidney, Autosomal Recessive/genetics
Receptors, Cell Surface/genetics
[Mh] MeSH terms secundary: Adult
Bile Duct Diseases/pathology
Bile Ducts, Intrahepatic/embryology
Bile Ducts, Intrahepatic/pathology
Child
Exome/genetics
Female
Genetic Predisposition to Disease
Heterozygote
High-Throughput Nucleotide Sequencing
Humans
Male
Middle Aged
Pedigree
Phenotype
Polycystic Kidney, Autosomal Recessive/pathology
Prognosis
Young Adult
[Pt] Publication type:JOURNAL ARTICLE
[Nm] Name of substance:0 (PKHD1 protein, human); 0 (Receptors, Cell Surface)
[Em] Entry month:1610
[Cu] Class update date: 161021
[Lr] Last revision date:161021
[Js] Journal subset:IM
[Da] Date of entry for processing:016115
[St] Status:MEDLINE
[do] DOI:10.1002/ajmg.a.37352

  2 / 806 MEDLINE  
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[PMID]: 22952094
[Au] Autor:Popova-Jovanovska R; Genadieva-Dimitrova M; Trajkovska M; Serafimoski V
[Ad] Address:University Gastroenterohepatology Clinic, Medical Faculty, Skopje, R. Macedonia.
[Ti] Title:Choledochal cysts: diagnosis and treatment.
[So] Source:Prilozi;33(1):49-63, 2012.
[Is] ISSN:0351-3254
[Cp] Country of publication:Germany
[La] Language:ENG
[Ab] Abstract:The aim of this study is to show the different diagnostic procedures and treatment in patients diagnosed with congenital choledochal cysts. Choledochal cysts are congenital anomalies of the bile ducts and include cystic dilatation of the extrahepatic and intrahepatic biliary ducts or both. The study shows ten patients diagnosed as having choledochal cysts. Diagnosis was established by clinical and radiographic findings including: ultrasound (US), magnetic resonance cholangiopancreatograpy (MRCP), endoscopic retrograde cholangiopancreatography (ERCP), percutaneous transhepatic cholangiography (PTC) and cytological examination of the bile juice. In the study choledochal cysts were classified according to the Todani classification. Most common cysts were type I (six cases); type III (one case), type IVa (one case) and two patients were type V cysts (Caroli disease). The most frequent symptoms were abdominal pain, jaundice and cholangitis. US findings were sensitive for the preliminary diagnosis of choledochal cysts in all the patients. MRCP accurately defined the cyst anatomy and the site of the biliary origin in all the cases with extrahepatic cysts. In three cases ERCP clearly demonstrated the cyst and by PTC smaller cysts were well defined. Cytological examination of the bile juice obtained during the PTC procedure showed malignant cells in one case. Therefore pancreaticoduodenectomy was performed and pathological examination showed associated cholangiocarcinoma. Five years after the operation the patient was well and free of the disease. Five patients underwent surgical treatment with a total cyst excision and Roux-en-Y hepaticojejunostomy while the surgical approach in two patients was partial cyst excision and cystojejunostomy. Patients with Caroli disease were conservatively treated and 3 with interventional endoscopic procedures. Despite US evidence suggesting choledochal cyst diagnosis, other supportive radiographic imaging modalities such as MRCP, ERCP and PTC are required to define the precise cyst anatomy and are essential for the preoperative assessment. Total cyst excision is recommended for reducing cyst-related complications and risk of cholangiocarcinoma.
[Mh] MeSH terms primary: Choledochal Cyst/diagnosis
Choledochal Cyst/therapy
[Mh] MeSH terms secundary: Adolescent
Adult
Choledochal Cyst/classification
Diagnostic Imaging
Female
Humans
Infant
Male
Middle Aged
Treatment Outcome
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1604
[Cu] Class update date: 161021
[Lr] Last revision date:161021
[Js] Journal subset:IM
[Da] Date of entry for processing:201296
[St] Status:MEDLINE

  3 / 806 MEDLINE  
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[PMID]: 26385435
[Au] Autor:Lai Q; Lerut J
[Ad] Address:Starzl Unit Abdominal Transplantation, University Hospitals Saint Luc, Université catholique Louvain, UCL, Brussels, Belgium.
[Ti] Title:Proposal for an algorithm for liver transplantation in Caroli's disease and syndrome: putting an uncommon effort into a common task.
[So] Source:Clin Transplant;30(1):3-9, 2016 Jan.
[Is] ISSN:1399-0012
[Cp] Country of publication:Denmark
[La] Language:ENG
[Ab] Abstract:Liver transplantation (LT) represents an uncommon indication for Caroli's disease (CD) or syndrome (CS). Excellent results of LT have been reported as shown by recent multicentric European and American registry reports. Clear therapeutic flowcharts to adopt in these diseases are still lacking. This review aims at analyzing highlighting recent transplant experiences in this field and also at focusing on the role of LT in case-specific comorbidities such as development of cholangiocellular cancer or renal failure are present.
[Mh] MeSH terms primary: Algorithms
Caroli Disease/surgery
Liver Transplantation
[Mh] MeSH terms secundary: Humans
Syndrome
[Pt] Publication type:JOURNAL ARTICLE; REVIEW
[Em] Entry month:1610
[Cu] Class update date: 161019
[Lr] Last revision date:161019
[Js] Journal subset:IM
[Da] Date of entry for processing:016111
[St] Status:MEDLINE
[do] DOI:10.1111/ctr.12640

  4 / 806 MEDLINE  
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[PMID]: 27746440
[Au] Autor:Hasegawa E; Sawa N; Hoshino J; Suwabe T; Hayami N; Yamanouchi M; Sekine A; Hiramatsu R; Imafuku A; Kawada M; Ubara Y; Imamura T; Takaichi K
[Ad] Address:Nephrology Center, Toranomon Hospital, Japan.
[Ti] Title:Recurrent Cholangitis in a Patient with Autosomal Dominant Polycystic Kidney Disease (ADPKD) and Caroli's Disease.
[So] Source:Intern Med;55(20):3009-3012, 2016.
[Is] ISSN:1349-7235
[Cp] Country of publication:Japan
[La] Language:ENG
[Ab] Abstract:We herein present a rare case of an autosomal dominant polycystic kidney disease (ADPKD) patient with Caroli's disease, a congenital embryonic biliary tree ductal plate abnormality often associated with autosomal recessive polycystic kidney disease. A 76-year-old woman with ADPKD on hemodialysis was admitted to our hospital with recurrent cholangitis and hepatobiliary stones. Caroli's disease was diagnosed according to typical imaging findings of cystic intrahepatic bile duct dilatation and the central dot sign. Hepatobiliary system abnormalities such as Caroli's disease should be considered in febrile ADPKD patients, even in the absence of typical clinical signs or symptoms.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1610
[Cu] Class update date: 161018
[Lr] Last revision date:161018
[St] Status:In-Data-Review

  5 / 806 MEDLINE  
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[PMID]: 27645598
[Au] Autor:Bakhotmah MA
[Ad] Address:Department of Surgery, King Abdulaziz University Hospital, Jeddah, Kingdom of Saudi Arabia.
[Ti] Title:Histiocytosis X and Caroli's Disease.
[So] Source:Saudi Med J;20(9):722-3, 1999 Sep.
[Is] ISSN:0379-5284
[Cp] Country of publication:Saudi Arabia
[La] Language:eng
[Ab] Abstract:Full text is available as a scanned copy of the original print version.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1609
[Da] Date of entry for processing:160920
[St] Status:PubMed-not-MEDLINE

  6 / 806 MEDLINE  
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[PMID]: 26260382
[Au] Autor:Park E; Lee JM; Ahn YH; Kang HG; Ha II; Lee JH; Park YS; Kim NK; Park WY; Cheong HI
[Ad] Address:Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea.
[Ti] Title:Hepatorenal fibrocystic diseases in children.
[So] Source:Pediatr Nephrol;31(1):113-9, 2016 Jan.
[Is] ISSN:1432-198X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: Hepatorenal fibrocystic diseases (HRFCDs) are a group of monogenic disorders characterized by developmental abnormalities involving the liver and kidney. In this study, we performed genotype and phenotype analyses of children with HRFCDs to determine the distribution of underlying diseases. METHODS: A total of 36 children with HRFCDs were recruited, with genetic tests being performed in 22 patients and 14 patients diagnosed clinically as having autosomal recessive polycystic kidney disease (ARPKD). RESULTS: In children with HRFCDs, ARPKD was the most common disease, found in 16/36 (44.4 %), followed by nephronophthisis 13 (NPHP13) in 11/36 (30.6 %) and Meckel-Gruber syndrome type 3 (MKS3) in 4/36 (11.1 %). Renal function deteriorated faster in children with NPHP13. The main hepatic pathology was Caroli disease in the NPHP13 patients, while most other patients had Caroli syndrome or congenital hepatic fibrosis. Of note, three of four MKS3 patients had an accompanying choledochal cyst. No ARPKD patient had other organ involvement, while several NPHP13 patients had ocular and/or neurodevelopmental involvement. In contrast, all MKS3 patients had severe ocular and neurodevelopmental involvement. CONCLUSIONS: NPHP13 is a major disease in the HRFCD category, and thorough evaluation of its clinical features, including kidney, liver and other organ involvement, may aid in the differential diagnosis of HRFCD.
[Mh] MeSH terms primary: Caroli Disease/epidemiology
Ciliary Motility Disorders/epidemiology
Encephalocele/epidemiology
Genetic Diseases, Inborn/epidemiology
Liver Cirrhosis/epidemiology
Polycystic Kidney Diseases/epidemiology
Polycystic Kidney, Autosomal Recessive/epidemiology
[Mh] MeSH terms secundary: Adolescent
Adult
Age Factors
Caroli Disease/diagnosis
Caroli Disease/genetics
Child
Child, Preschool
Ciliary Motility Disorders/diagnosis
Ciliary Motility Disorders/genetics
Encephalocele/diagnosis
Encephalocele/genetics
Female
Genetic Diseases, Inborn/diagnosis
Genetic Diseases, Inborn/genetics
Genetic Predisposition to Disease
Genetic Testing
Humans
Infant
Kidney Failure, Chronic/epidemiology
Liver Cirrhosis/diagnosis
Liver Cirrhosis/genetics
Male
Phenotype
Polycystic Kidney Diseases/diagnosis
Polycystic Kidney Diseases/genetics
Polycystic Kidney, Autosomal Recessive/diagnosis
Polycystic Kidney, Autosomal Recessive/genetics
Predictive Value of Tests
Prognosis
Renal Insufficiency, Chronic/epidemiology
Republic of Korea/epidemiology
Risk Factors
Young Adult
[Pt] Publication type:COMPARATIVE STUDY; JOURNAL ARTICLE; MULTICENTER STUDY; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1608
[Js] Journal subset:IM
[Da] Date of entry for processing:151117
[St] Status:MEDLINE
[do] DOI:10.1007/s00467-015-3185-4

  7 / 806 MEDLINE  
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[PMID]: 27188889
[Au] Autor:Katabathina VS; Kapalczynski W; Menias C
[Ad] Address:UT Health Science Center at San Antonio, San Antonio, TX, USA. katabathina@uthscsa.edu.
[Ti] Title:Response to letter on Caroli disease.
[So] Source:Abdom Radiol (NY);41(9):1875, 2016 Sep.
[Is] ISSN:2366-0058
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1608
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1007/s00261-016-0783-y

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[PMID]: 27156078
[Au] Autor:Tunçyürek Ö; Lomas DJ
[Ad] Address:Radiology Department, Faculty of Medicine, Adnan Menderes University, 09100, Aydin, Turkey. ozum.tuncyurek@gmail.com.
[Ti] Title:Should Caroli's disease be in the Todani classification?
[So] Source:Abdom Radiol (NY);41(9):1873-4, 2016 Sep.
[Is] ISSN:2366-0058
[Cp] Country of publication:United States
[La] Language:eng
[Pt] Publication type:LETTER
[Em] Entry month:1608
[Js] Journal subset:IM
[St] Status:In-Data-Review
[do] DOI:10.1007/s00261-016-0773-0

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[PMID]: 25726036
[Au] Autor:Lee JM; Ahn YH; Kang HG; Ha II; Lee K; Moon KC; Lee JH; Park YS; Cho YM; Bae JS; Kim NK; Park WY; Cheong HI
[Ad] Address:Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehak-Ro, Jongno-Gu, Seoul, 110-744, Korea.
[Ti] Title:Nephronophthisis 13: implications of its association with Caroli disease and altered intracellular localization of WDR19 in the kidney.
[So] Source:Pediatr Nephrol;30(9):1451-8, 2015 Sep.
[Is] ISSN:1432-198X
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:BACKGROUND: Nephronophthisis 13 (NPHP 13) is associated with mutations in the WDR19 gene, which encodes for a protein in the intraflagellar transport complex. Herein, we describe six additional cases accompanied by Caroli syndrome or disease. METHODS: Targeted exome sequencing covering 96 ciliopathy-related genes was performed for 48 unrelated Korean patients with a clinical suspicion of NPHP. Mutations were confirmed by Sanger sequencing. We evaluated the expression of WDR19 in the biopsied kidney by immunohistochemistry in patients and controls. RESULTS: We detected three (3/48, 6.3 %) unrelated index cases with WDR19 mutations. One of the cases involved two siblings with the same mutation. Later, we detected an additional index case with a similar phenotype of kidney and liver involvement by Sanger sequencing of WDR19. The p.R1178Q mutation was common in all patients. All of the six affected patients from four families progressed to chronic kidney disease. Of note, all six patients had Caroli syndrome or disease. Immunohistochemistry for WDR19 showed localized expression along the luminal borders of the renal tubular epithelium in controls, whereas it showed diffuse cytoplasmic staining in the affected patients. CONCLUSIONS: Caroli disease is a major extra-renal phenotype associated with mutations in WDR19 in the Korean population. In this study, we visually validated the expression pattern of mutant WDR19 protein in the kidneys of NPHP 13 patients. More data are needed to identify the true frequency of p.R1178Q. Functional studies including transfection assay will provide solid grounds for the pathogenicity of each mutation.
[Mh] MeSH terms primary: Caroli Disease
Kidney/pathology
Polycystic Kidney, Autosomal Recessive
Proteins/genetics
[Mh] MeSH terms secundary: Adolescent
Caroli Disease/diagnosis
Caroli Disease/genetics
Child
Female
Humans
Male
Mutation
Polycystic Kidney, Autosomal Recessive/diagnosis
Polycystic Kidney, Autosomal Recessive/genetics
Repetitive Sequences, Amino Acid/genetics
Republic of Korea
Young Adult
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Proteins); 0 (WDR19 protein, human)
[Em] Entry month:1608
[Js] Journal subset:IM
[Da] Date of entry for processing:150814
[St] Status:MEDLINE
[do] DOI:10.1007/s00467-015-3068-8

  10 / 806 MEDLINE  
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[PMID]: 26522945
[Au] Autor:Pech L; Favelier S; Falcoz MT; Loffroy R; Krause D; Cercueil JP
[Ad] Address:Department of diagnostic and interventional radiology, digestive, thoracic and oncologic unit, CHU de Dijon, 14, rue Paul-Gaffarel, BP 77908, 21079 Dijon cedex, France. Electronic address: laurianne.debize@gmail.com.
[Ti] Title:Imaging of Von Meyenburg complexes.
[So] Source:Diagn Interv Imaging;97(4):401-9, 2016 Apr.
[Is] ISSN:2211-5684
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:Von Meyenburg complexes, or biliary hamartomas, are frequently incidentally detected. They are usually easy to characterize with magnetic resonance imaging. However, in some occasions they are difficult to differentiate from other liver lesions, in particular from small liver metastases. Von Meyenburg complexes are developmental malformations of the ductal plate. They can be found in association with Caroli disease and Caroli syndrome. Like other ductal plate malformations, Von Meyenburg complexes associated with cholangiocarcinoma have been described and their relationship has been established. This review provides an update on the etiopathogenesis of Von Meyenburg complexes, illustrates the imaging features on ultrasound, CT and MRI of this condition and discusses the most common diagnostic pitfalls. The relationships between Von Meyenburg complexes and the various ductal plate malformations and the most recent literature data regarding the relationships between Von Meyenburg complexes and cholangiocarcinoma are presented.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1603
[Js] Journal subset:IM
[St] Status:In-Process


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