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[PMID]: 24958584
[Au] Autor:Grieb D; Feldkamp A; Lang T; Melter M; Stroszczynski C; Brassel F; Meila D
[Ad] Address:Departments of Radiology, and Neuroradiology and....
[Ti] Title:Caroli disease associated with vein of Galen malformation in a male child.
[So] Source:Pediatrics;134(1):e284-8, 2014 Jul.
[Is] ISSN:1098-4275
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:We report the first case of a male child with both Caroli disease and vein of Galen malformation. The neonate presented to our department with congestive heart failure as a result of the intracranial arteriovenous high-flow shunt. Over time, several endovascular embolizations led to a complete angiographic occlusion of the shunt. Additionally, the diagnosis of Caroli disease was made at the age of 2 months. He developed choledocholithiasis necessitating endoscopic sphincterotomy and stone extraction. As a prolonged medical treatment he received ursodeoxycholic acid and antibiotics. A coincidence of Caroli disease and vein of Galen malformation has not yet been described. Both diseases are very rare, leading to the question of whether there is a link in the pathogenesis. Based on the few previously described underlying mechanisms, we develop hypotheses about the relationship between both rare diseases. We consider overexpression of vascular endothelial growth factor and its receptors as a possible common molecular mechanism in their pathogenesis. We also highlight the critical role of increased expression of the Notch ligand Jagged 1 both in the development of cerebral arteriovenous malformations in general and in the formation of dilated intrahepatic bile ducts (eg, in Caroli disease).
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1407
[Js] Journal subset:AIM; IM
[St] Status:In-Process
[do] DOI:10.1542/peds.2013-0747

  2 / 1194 MEDLINE  
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[PMID]: 25058754
[Au] Autor:Knapp J; Sako Y; Grenouillet F; Bresson-Hadni S; Richou C; Gbaguidi-Haore H; Ito A; Millon L
[Ad] Address:Laboratory of Chrono-environnement, UMR/CNRS 6249, Faculty of Medicine and Pharmacy, Besançon, France - WHO Collaborating Centre for prevention and treatment of human echinococcosis, Besançon, France....
[Ti] Title:Comparison of the serological tests ICT and ELISA for the diagnosis of alveolar echinococcosis in France☆.
[So] Source:Parasite;21:34, 2014.
[Is] ISSN:1776-1042
[Cp] Country of publication:France
[La] Language:eng
[Ab] Abstract:Serological diagnosis of alveolar echinococcosis (AE) is a key element for efficient patient treatment management. A rapid immunochromatography test kit (ICT) using the recombinant Em18 antigen (rEm18) was recently developed. The aim of our study was to assess this test on a panel of sera from French patients with alveolar echinococcosis and control patients. In a blind test, a total of 112 serum samples were tested including samples of AE (n = 30), cystic echinococcosis [CE] (n = 15), and polycystic echinococcosis [PE] (n = 1). For the comparison, 66 sera from patients with hepatocarcinoma, fascioliasis, toxocariasis, Caroli's disease, or autoimmune chronic active hepatitis were used. The diagnostic test sets we used were the rEm18-ICT and two validated ELISAs with rEm18 and Em2-Em18 antigens, respectively. For the ICT, 27/30 sera from AE patients, 4/15 sera from CE patients and the PE patient serum were positive. One serum from the control panel (toxocariasis) was positive for the ICT. The rEm18-ICT sensitivity (90.0%) and specificity (92.7%) for detection of Em18-specific antibodies confirmed it as a relevant tool for AE diagnosis. The rEm18-ELISA had a sensitivity of 86.7% and specificity of 91.5%, and the Em2-Em18-ELISA had a sensitivity of 96.7% and specificity of 87.8%. However, when AE patient sera are recorded as weak in intensity with the ICT, we recommend a double reading and use of a reference sample if the ICT is used for patient follow-up.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1407
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1051/parasite/2014037

  3 / 1194 MEDLINE  
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[PMID]: 23744610
[Au] Autor:Spirli C; Locatelli L; Morell CM; Fiorotto R; Morton SD; Cadamuro M; Fabris L; Strazzabosco M
[Ad] Address:Liver Center & Section of Digestive Diseases, Department of Internal Medicine, Yale University, New Haven, CT, USA.
[Ti] Title:Protein kinase A-dependent pSer(675) -ß-catenin, a novel signaling defect in a mouse model of congenital hepatic fibrosis.
[So] Source:Hepatology;58(5):1713-23, 2013 Nov.
[Is] ISSN:1527-3350
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:UNLABELLED: Genetically determined loss of fibrocystin function causes congenital hepatic fibrosis (CHF), Caroli disease (CD), and autosomal recessive polycystic kidney disease (ARPKD). Cystic dysplasia of the intrahepatic bile ducts and progressive portal fibrosis characterize liver pathology in CHF/CD. At a cellular level, several functional morphological and signaling changes have been reported including increased levels of 3'-5'-cyclic adenosine monophosphate (cAMP). In this study we addressed the relationships between increased cAMP and ß-catenin. In cholangiocytes isolated and cultured from Pkhd1(del4/del4) mice, stimulation of cAMP/PKA signaling (forskolin 10 µM) stimulated Ser(675) -phosphorylation of ß-catenin, its nuclear localization, and its transcriptional activity (western blot and TOP flash assay, respectively) along with a down-regulation of E-cadherin expression (immunocytochemistry and western blot); these changes were inhibited by the PKA blocker, PKI (1 µM). The Rho-GTPase, Rac-1, was also significantly activated by cAMP in Pkhd1(del4/del4) cholangiocytes. Rac-1 inhibition blocked cAMP-dependent nuclear translocation and transcriptional activity of pSer(675) -ß-catenin. Cell migration (Boyden chambers) was significantly higher in cholangiocytes obtained from Pkhd1(del4/del4) and was inhibited by: (1) PKI, (2) silencing ß-catenin (siRNA), and (3) the Rac-1 inhibitor NSC 23766. CONCLUSION: These data show that in fibrocystin-defective cholangiocytes, cAMP/PKA signaling stimulates pSer(675) -phosphorylation of ß-catenin and Rac-1 activity. In the presence of activated Rac-1, pSer(675) -ß-catenin is translocated to the nucleus, becomes transcriptionally active, and is responsible for increased motility of Pkhd1(del4/del4) cholangiocytes. ß-Catenin-dependent changes in cell motility may be central to the pathogenesis of the disease and represent a potential therapeutic target.
[Mh] MeSH terms primary: Cyclic AMP-Dependent Protein Kinases/physiology
Genetic Diseases, Inborn/etiology
Liver Cirrhosis/etiology
Signal Transduction
beta Catenin/metabolism
[Mh] MeSH terms secundary: Active Transport, Cell Nucleus
Animals
Bile Ducts/cytology
Cell Movement
Cyclic AMP/physiology
Disease Models, Animal
Genetic Diseases, Inborn/metabolism
Liver Cirrhosis/metabolism
Mice
Mice, Inbred C57BL
Neuropeptides/physiology
Receptors, Cell Surface/physiology
rac1 GTP-Binding Protein/physiology
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Catnb protein, mouse); 0 (Neuropeptides); 0 (Pkhd1 protein, mouse); 0 (Rac1 protein, mouse); 0 (Receptors, Cell Surface); 0 (beta Catenin); E0399OZS9N (Cyclic AMP); EC 2.7.11.11 (Cyclic AMP-Dependent Protein Kinases); EC 3.6.5.2 (rac1 GTP-Binding Protein)
[Em] Entry month:1403
[Cu] Class update date: 140731
[Lr] Last revision date:140731
[Js] Journal subset:IM
[Da] Date of entry for processing:140120
[St] Status:MEDLINE
[do] DOI:10.1002/hep.26554

  4 / 1194 MEDLINE  
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[PMID]: 24286473
[Au] Autor:Di Mauro A; Caroli Casavola V; Favia Guarnieri G; Calderoni G; Cicinelli E; Laforgia N
[Ad] Address:Department of Biomedical Science and Human Oncology, Neonatology and Neonatal Intensive Care Unit, University of Bari, "Aldo Moro", P,zza Giulio Cesare, 11, 70125 Bari, Italy. dimauroantonio@msn.com.
[Ti] Title:Antenatal and postnatal combined therapy for autoantibody-related congenital atrioventricular block.
[So] Source:BMC Pregnancy Childbirth;13:220, 2013.
[Is] ISSN:1471-2393
[Cp] Country of publication:England
[La] Language:eng
[Ab] Abstract:BACKGROUND: Autoantibody-related congenital heart block (CHB) is an autoimmune condition in which trans placental passage of maternal autoantibodies cause damage to the developing heart conduction system of the foetus. CASE PRESENTATION: We report a case of an Italian 31-year-old woman, in a good clinical status, referred to our Centre at 26 weeks of her first pregnancy, because of foetal bradycardia, found during routine foetal ultrasonography. Foetal echocardiography revealed a 3rd degree CHB, without any anatomical defects. Despite the mother was asymptomatic for autoimmune disease, anti-Ro/La were searched for, because of the hypothesis of autoantibody-related CHB. High title of maternal anti-Ro/SSA antibodies was found and diagnosis of an autoantibody-related CHB was made. A combination treatment protocol of the mother was started with oral betamethasone, plasmapheresis and IVIG. An emergency C-section was performed at 32 + 3 weeks of gestation because of a non-reassuring cardiotocography pattern. A male newborn (BW 1515 g, NGA, Apgar 8-10) was treated since birth with high-flow O2 for mild RDS. IVIG administration was started at one week, and then every two weeks, until complete disappearance of maternal antibodies from blood. Because of persistent low ventricular rate (<60/min), seven days following birth, pacemaker implantation was performed. The baby is now at 40th week with no signs of cardiac failure and free of any medications. CONCLUSION: Up to date, no guidelines have been published for the treatment of "in utero-CHB" and only anecdotal reports are available. It has been stated that a combination therapy protocol is effective in reversing a 2nd degree CHB, but not for 3rd degree CHB. In cases of foetal bradycardia, weekly foetal echocardiographic monitoring needs to be performed and in cases of 2nd degree CHB and 3rd degree CHB maternal therapy could be suggested, as in our case, to avoid foetal heart failure. In cases of 3rd degree CHB often pacemaker implantation is needed.
[Mh] MeSH terms primary: Antibodies, Antinuclear/blood
Fetal Diseases/therapy
Heart Block/congenital
Postnatal Care
Prenatal Care
[Mh] MeSH terms secundary: Adult
Betamethasone/therapeutic use
Cesarean Section
Female
Fetal Diseases/immunology
Fetal Diseases/ultrasonography
Glucocorticoids/therapeutic use
Heart Block/immunology
Heart Block/therapy
Heart Block/ultrasonography
Humans
Immunoglobulins, Intravenous/therapeutic use
Immunologic Factors
Infant, Newborn
Male
Maternal-Fetal Exchange
Pacemaker, Artificial
Plasmapheresis
Pregnancy
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Antibodies, Antinuclear); 0 (Glucocorticoids); 0 (Immunoglobulins, Intravenous); 0 (Immunologic Factors); 0 (SS-A antibodies); 9842X06Q6M (Betamethasone)
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:131209
[St] Status:MEDLINE
[do] DOI:10.1186/1471-2393-13-220

  5 / 1194 MEDLINE  
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[PMID]: 21845392
[Au] Autor:Calinescu-Tuleasca AM; Bottani A; Rougemont AL; Birraux J; Gubler MC; Le Coultre C; Majno P; Mentha G; Girardin E; Belli D; Wildhaber BE
[Ad] Address:Service of Pediatric Surgery, University Hospitals of Geneva, 6 Rue Willy Donzé, 1205 Geneva, Switzerland. Ana-maria.Calinescu@hcuge.ch
[Ti] Title:Caroli disease, bilateral diffuse cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas: a ciliopathy caused by a homozygous NPHP3 mutation.
[So] Source:Eur J Pediatr;172(7):877-81, 2013 Jul.
[Is] ISSN:1432-1076
[Cp] Country of publication:Germany
[La] Language:eng
[Ab] Abstract:UNLABELLED: We report the rare association of Caroli disease (intrahepatic bile duct ectasia associated with congenital hepatic fibrosis), bilateral cystic renal dysplasia, situs inversus, postaxial polydactyly, and preauricular fistulas in a female child. She presented with end-stage renal disease at the age of 1 month, followed by a rapidly progressing hepatic fibrosis and dilatation of the intrahepatic bile ducts, leading to secondary biliary cirrhosis and portal hypertension. Combined liver-kidney transplantation was performed at the age of 4 years, with excellent outcome. DNA analysis showed a NPHP3 (coding nephrocystin-3) homozygote mutation, confirming that this malformation complex is a ciliopathy. CONCLUSION: This rare association required an exceptional therapeutic approach: combined simultaneous orthotopic liver and kidney transplantation in a situs inversus recipient. The long-term follow-up was excellent with a very good evolution of the renal and hepatic grafts and normalization of growth and weight. This malformation complex has an autosomal recessive inheritance with a 25% recurrence risk in each pregnancy.
[Mh] MeSH terms primary: Abnormalities, Multiple/genetics
Caroli Disease/genetics
Craniofacial Abnormalities/genetics
Kinesin/genetics
Polycystic Kidney, Autosomal Recessive/genetics
Polydactyly/genetics
Situs Inversus/genetics
[Mh] MeSH terms secundary: Abnormalities, Multiple/surgery
Caroli Disease/pathology
Child, Preschool
Female
Humans
Kidney Transplantation
Liver Transplantation
Mutation
Polycystic Kidney, Autosomal Recessive/pathology
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE
[Nm] Name of substance:EC 3.6.1.- (Kinesin); EC 3.6.1.- (nephrocystin-3, human)
[Em] Entry month:1403
[Cu] Class update date: 140731
[Lr] Last revision date:140731
[Js] Journal subset:IM
[Da] Date of entry for processing:130705
[St] Status:MEDLINE
[do] DOI:10.1007/s00431-011-1552-0

  6 / 1194 MEDLINE  
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[PMID]: 23692791
[Au] Autor:Gençpinar P; Makay BB; Gattorno M; Caroli F; Ünsal E
[Ad] Address:Department of Pediatrics, Dokuz Eylül University Faculty of Medicine, Izmir, Turkey. erbil.unsal@deu.edu.tr.
[Ti] Title:Mevalonate kinase deficiency (hyper IgD syndrome with periodic fever)--different faces with separate treatments: two cases and review of the literature.
[So] Source:Turk J Pediatr;54(6):641-4, 2012 Nov-Dec.
[Is] ISSN:0041-4301
[Cp] Country of publication:Turkey
[La] Language:eng
[Ab] Abstract:The hyperimmunoglobulinemia D syndrome (HIDS), so-called mevalonate kinase deficiency, is caused by recessive mutations in the gene encoding mevalonate kinase enzyme. HIDS is characterized by recurrent fever attacks of 3-7 days that begin in infancy and recur every 4-6 weeks. The febrile period is accompanied by lymphadenopathy, arthralgia, abdominal pain, diarrhea, aphthous ulcers, and varying degree of skin involvement. The course and severity of the disease may be quite different. There is no effective or proven therapy for HIDS. We report two cases with HIDS, which had separate clinical findings and treatment strategies.
[Mh] MeSH terms primary: Mevalonate Kinase Deficiency/therapy
Phosphotransferases (Alcohol Group Acceptor)/blood
Remission Induction/methods
[Mh] MeSH terms secundary: Child
Child, Preschool
DNA/genetics
DNA Mutational Analysis
Diagnosis, Differential
Female
Follow-Up Studies
Glucocorticoids/therapeutic use
Humans
Immunosuppressive Agents/therapeutic use
Male
Mevalonate Kinase Deficiency/diagnosis
Mevalonate Kinase Deficiency/enzymology
Mutation
Phosphotransferases (Alcohol Group Acceptor)/genetics
[Pt] Publication type:CASE REPORTS; JOURNAL ARTICLE; REVIEW
[Nm] Name of substance:0 (Glucocorticoids); 0 (Immunosuppressive Agents); 9007-49-2 (DNA); EC 2.7.1.- (Phosphotransferases (Alcohol Group Acceptor)); EC 2.7.1.36 (mevalonate kinase)
[Em] Entry month:1407
[Js] Journal subset:IM
[Da] Date of entry for processing:130522
[St] Status:MEDLINE

  7 / 1194 MEDLINE  
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[PMID]: 25013645
[Au] Autor:Zahmatkeshan M; Bahador A; Geramizade B; Emadmarvasti V; Malekhosseini SA
[Ad] Address:Department of pediatrics, school of medicine, Shiraz University of Medical Sciences, Shiraz, Iran....
[Ti] Title:Liver transplantation for caroli disease.
[So] Source:Int J Organ Transplant Med;3(4):189-91, 2012.
[Is] ISSN:2008-6482
[Cp] Country of publication:Iran
[La] Language:eng
[Ab] Abstract:Caroli disease is a rare congenital disorder characterized by multifocal, segmental dilatation of intrahepatic bile ducts. Patients with Caroli disease who have recurrent bouts of biliary infection, particularly those who also have complications related to portal hypertension may require liver transplantation. In liver transplant ward of Shiraz University of Medical Science we had 4 patients with Caroli disease who were transplanted. Herein, we describe the demographic characteristics and post-transplant course of the patients. These patients presented with liver failure, recurrent cholangitis and portal hypertension sequelae unresponsive to medical treatment. The mean age of patients was 24.5 (range: 18-36) years, the mean MELD score was 17.5 (range: 11-23), three patients were female; one was male. All of the patients had good post-transplantation course except for one patient who developed post-operative biliary stricture for whom biliary reconstruction was done.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1407
[Cu] Class update date: 140717
[Lr] Last revision date:140717
[Da] Date of entry for processing:140711
[St] Status:PubMed-not-MEDLINE

  8 / 1194 MEDLINE  
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[PMID]: 24969198
[Au] Autor:Shenoy P; Zaki SA; Shanbag P; Bhongade S
[Ad] Address:Division of Pediatric Nephrology, Department of Pediatrics, Lokmanya Tilak Municipal General Hospital and Medical College, Sion, Mumbai, India.
[Ti] Title:Caroli's syndrome with autosomal recessive polycystic kidney disease.
[So] Source:Saudi J Kidney Dis Transpl;25(4):840-3, 2014 Jul-Aug.
[Is] ISSN:1319-2442
[Cp] Country of publication:Saudi Arabia
[La] Language:eng
[Ab] Abstract:Caroli's syndrome (CS) is a rare congenital disorder characterized by multiple segmental cystic or saccular dilatations of the intrahepatic bile ducts and congenital hepatic fibrosis. We report a 9-year-old boy who was diagnosed with CS and autosomal recessive poly-cystic kidney disease. On screening, his 5-month-old asymptomatic sister had multiple dilated biliary radicals with multiple bilateral renal cystic lesions. Both the patient and the affected sibling have been advised regular follow-up for monitoring the progression of the disease. In conclusion, patients with CS should be screened for renal cystic lesions and vice versa even if they are asymptomatic. Also, as the disease is inherited in an autosomal recessive manner, it is important to screen family members for early diagnosis and management.
[Pt] Publication type:JOURNAL ARTICLE
[Em] Entry month:1406
[Js] Journal subset:IM
[St] Status:In-Data-Review

  9 / 1194 MEDLINE  
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[PMID]: 23375562
[Au] Autor:Prestia A; Caroli A; Herholz K; Reiman E; Chen K; Jagust WJ; Frisoni GB; Translational Outpatient Memory Clinic Working Group; Alzheimer's Disease Neuroimaging Initiative
[Ad] Address:Laboratory of Epidemiology Neuroimaging and Telemedicine, and Unit for the Clinical Translation of Research, IRCCS Centro San Giovanni di Dio FBF, Brescia, Italy.
[Ti] Title:Diagnostic accuracy of markers for prodromal Alzheimer's disease in independent clinical series.
[So] Source:Alzheimers Dement;9(6):677-86, 2013 Nov.
[Is] ISSN:1552-5279
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:OBJECTIVE: To capitalize on data from different clinical series to compare sensitivity and specificity of individual biomarkers for predicting mild cognitive impairment (MCI) progression to Alzheimer's disease (AD). METHODS: Medial temporal atrophy, cortical hypometabolism, and cerebrospinal fluid biomarkers were assessed in 18 patients with mild cognitive impairment (MCI) with prodromal AD (pAD; conversion time, 26 ± 12 months) and 18 stable MCI (sMCI) patients from the Translational Outpatient Memory Clinic cohort, as well as in 24 pAD patients (conversion time, 36 ± 12 months) and 33 sMCI patients from the Alzheimer's Disease Neuroimaging Initiative cohort. Medial temporal atrophy was measured by manual, semi-automated, and automated hippocampal volumetry; cortical hypometabolism was measured using several indices of AD-related hypometabolism pattern; and cerebrospinal fluid markers were amyloid ß (Aß)42 and total tau protein concentrations. For each biomarker, sensitivity for pAD, specificity for sMCI, and diagnostic accuracy were computed. RESULTS: Sensitivity to predict MCI conversion to AD in the Alzheimer's Disease Neuroimaging Initiative and Translational Outpatient Memory Clinic cohorts was 79% and 94% based on Aß42, 46% and 28% based on hippocampal volumes, 33% to 66% and 56% to 78% based on different hypometabolism indices, and 46% and 61% based on total tau levels, respectively. Specificity to exclude sMCI was 27% and 50% based on Aß42, 76% and 94% based on hippocampal volumes, 58% to 67% and 55% to 83% based on different hypometabolism indices, and 61% and 83% based on total tau levels, respectively. CONCLUSIONS: Current findings suggest that Aß42 concentrations and hippocampal volumes may be used in combination to best identify pAD.
[Mh] MeSH terms primary: Alzheimer Disease/diagnosis
Amyloid beta-Peptides/cerebrospinal fluid
Biological Markers/analysis
Cognition Disorders/cerebrospinal fluid
Cognition Disorders/diagnosis
Hippocampus/pathology
Peptide Fragments/cerebrospinal fluid
[Mh] MeSH terms secundary: Aged
Aged, 80 and over
Cognition Disorders/complications
Databases, Factual/statistics & numerical data
Disease Progression
Female
Fluorodeoxyglucose F18/diagnostic use
Hippocampus/radionuclide imaging
Humans
Magnetic Resonance Imaging
Male
Middle Aged
Positron-Emission Tomography
Sensitivity and Specificity
Statistics, Nonparametric
Time Factors
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, N.I.H., EXTRAMURAL; RESEARCH SUPPORT, NON-U.S. GOV'T
[Nm] Name of substance:0 (Amyloid beta-Peptides); 0 (Biological Markers); 0 (Peptide Fragments); 0 (amyloid beta-protein (1-42)); 0Z5B2CJX4D (Fluorodeoxyglucose F18)
[Em] Entry month:1406
[Js] Journal subset:IM
[Da] Date of entry for processing:131108
[St] Status:MEDLINE

  10 / 1194 MEDLINE  
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[PMID]: 24710345
[Au] Autor:Hao X; Liu S; Dong Q; Zhang H; Zhao J; Su L
[Ad] Address:Pediatric Surgery, The Affiliated Hospital of Medical College, Qingdao University, Qingdao, China....
[Ti] Title:Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.
[So] Source:PLoS One;9(4):e92661, 2014.
[Is] ISSN:1932-6203
[Cp] Country of publication:United States
[La] Language:eng
[Ab] Abstract:BACKGROUND: Mutations in PKHD1 cause autosomal recessive Caroli disease, which is a rare congenital disorder involving cystic dilatation of the intrahepatic bile ducts. However, the mutational spectrum of PKHD1 and the phenotype-genotype correlations have not yet been fully established. METHODS: Whole exome sequencing (WES) was performed on one twin sample with Caroli disease from a Chinese family from Shandong province. Routine Sanger sequencing was used to validate the WES and to carry out segregation studies. We also described the PKHD1 mutation associated with the genotype-phenotype of this twin. RESULTS: A combination of WES and Sanger sequencing revealed the genetic defect to be a novel compound heterozygous genotype in PKHD1, including the missense mutation c.2507 T>C, predicted to cause a valine to alanine substitution at codon 836 (c.2507T>C, p.Val836Ala), and the nonsense mutation c.2341C>T, which is predicted to result in an arginine to stop codon at codon 781 (c.2341C>T, p.Arg781*). This compound heterozygous genotype co-segregates with the Caroli disease-affected pedigree members, but is absent in 200 normal chromosomes. CONCLUSIONS: Our findings indicate exome sequencing can be useful in the diagnosis of Caroli disease patients and associate a compound heterozygous genotype in PKHD1 with Caroli disease, which further increases our understanding of the mutation spectrum of PKHD1 in association with Caroli disease.
[Pt] Publication type:JOURNAL ARTICLE; RESEARCH SUPPORT, NON-U.S. GOV'T
[Em] Entry month:1404
[Js] Journal subset:IM
[St] Status:In-Process
[do] DOI:10.1371/journal.pone.0092661


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