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Caroli disease

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https://www.readbyqxmd.com/read/28921746/identification-of-occult-active-infection-using-pet-ct-in-a-combined-liver-kidney-transplant-candidate
#1
Julien Al Shakarchi, Desley Neil, Graham Lipkin, Ahmed Elsharkawy, Nicholas Inston
This case describes a patient being considered for combined liver-kidney transplantation for Caroli's disease with a failed renal transplant. A chronic septic focus could not be located with standard imaging techniques, such as ultrasonography and computed tomography. This case report highlights the observation that a retained non-functioning transplant can be the cause of fever of unknown origin and PET-CT can be useful in diagnosing these challenging cases. This article is protected by copyright. All rights reserved...
September 16, 2017: Transplant Infectious Disease: An Official Journal of the Transplantation Society
https://www.readbyqxmd.com/read/28912093/lentiviral-gene-delivery-to-plasmolipin-expressing-cells-using-mus-caroli-endogenous-retrovirus-envelope-protein
#2
REVIEW
M M Prokofjeva, G M Proshkina, T D Lebedev, A A Shulgin, P V Spirin, V S Prassolov, S M Deyev
Gene therapy is a promising method for treating malignant diseases. One of the main problems is target delivery of therapeutic genes. Here we show that lentiviral vector particles pseudotyped with Mus caroli endogenous retrovirus (McERV) envelope protein can be used for selective transduction of PLLP-expressing cells. As a therapeutic gene in McERV-pseudotyped vector particles we used miniSOG encoding the cytotoxic FMN-binding protein, which can generate reactive oxygen species under illumination. Significant cytotoxic effect (up to 80% of dead cells in population) was observed in PLLP-expressing cells transduced with McERV-pseudotyped vector particles and subjected to illumination...
September 11, 2017: Biochimie
https://www.readbyqxmd.com/read/28892125/novel-spondyloepimetaphyseal-dysplasia-due-to-ufsp2-gene-mutation
#3
M Di Rocco, M Rusmini, F Caroli, A Madeo, M Bertamino, G Marre-Brunenghi, I Ceccherini
Beukes Hip Dysplasia is an autosomal dominant disease which has to date been described only in a large South African family of Dutch origin. The patients presented with progressive epiphyseal dysplasia limited to femoral capital epiphysis and their height was not significantly reduced. A unique variant of the ubiquitin-fold modifier 1 (Ufm1)-specific peptidase 2 (UFSP2) gene (c.868T>C) has been reported in all individuals from Beukes family with clinical and radiological diagnosis of Beukes Hip Dysplasia...
September 11, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28884036/severe-hepatopulmonary-syndrome-in-a-child-with-caroli-syndrome
#4
W De Jesus-Rojas, K McBeth, A Yadav, J M Stark, R A Mosquera, C Jon
Hepatopulmonary Syndrome (HPS) is a potential complication of chronic liver disease and is more commonly seen in the adult population. Caroli Syndrome is a rare inherited disorder characterized by intrahepatic ductal dilation and liver fibrosis that leads to portal hypertension. In children with liver disease, HPS should be considered in the differential diagnosis of prolonged, otherwise unexplained, hypoxemia. The presence of HPS can improve patient priority on the liver transplantation wait list, despite their Pediatric End-Stage Liver Disease (PELD) score...
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28814334/abernethy-malformation-associated-with-caroli-s-syndrome-in-a-patient-with-a-pkhd1-mutation-a-case-report
#5
Xiao-Xiao Mi, Xiao-Guang Li, Zi-Rong Wang, Ling Lin, Chun-Hai Xu, Jun-Ping Shi
BACKGROUND: Abernethy malformation is a rare congenital anomaly characterised by the partial or complete absence of the portal vein and the subsequent development of an extrahepatic portosystemic shunt. Caroli's disease is a rare congenital condition characterised by non-obstructive saccular intrahepatic bile duct dilation. Caroli's disease combined with congenital hepatic fibrosis and/or renal cystic disease is referred to - Caroli's syndrome. The combination of Abernethy malformation and Caroli's syndrome has not been reported previously...
August 16, 2017: Diagnostic Pathology
https://www.readbyqxmd.com/read/28771916/vitamin-d-deficiency-in-an-italian-cohort-of-infertile-women
#6
Paola Triggianese, Abdulla Watad, Francesca Cedola, Carlo Perricone, Howard Amital, Ilio Giambini, Roberto Perricone, Yehuda Shoenfeld, Caterina De Carolis
PROBLEM: The purpose of this study was to explore whether vitamin D might be a marker of female primary infertility in association with the presence of autoimmune diseases (ADs). METHODS: The study was a cross-sectional descriptive study in consecutive outpatients of the Polymedical Center for Prevention of Recurrent Spontaneous Abortion (RSA), in Rome, Italy. Women were eligible if they received a diagnosis of primary infertility or RSA. Serum vitamin D, calcium, and PTH were analyzed...
August 3, 2017: American Journal of Reproductive Immunology: AJRI
https://www.readbyqxmd.com/read/28734697/prognostic-significance-of-hmsh2-hmsh3-and-hmsh6-expression-in-ameloblastoma
#7
Gleyson Kleber do Amaral-Silva, Celeste Sánchez-Romero, Vivian Petersen Wagner, Manoela Domingues Martins, Hélder Antônio Rebelo Pontes, Eduardo Rodrigues Fregnani, Fernando Augusto Soares, Oslei Paes de Almeida, André Caroli Rocha, Alan Roger Santos-Silva, Felipe Paiva Fonseca, Pablo Agustin Vargas
OBJECTIVE: The aim of this study was to investigate hMutS proteins in developing human tooth, ameloblastomas, and ameloblastic carcinoma and to determine whether the expression of these proteins has any prognostic potential. STUDY DESIGN: Ten cases of developing human tooth, 39 ameloblastomas, and 2 ameloblastic carcinomas were used to determine the distribution of the proteins during the process of carcinogenesis. Simultaneously, another sample of 73 ameloblastomas was arranged in tissue microarray, and their clinical, microscopic, and radiographic features; treatment outcome; presence of BRAF-V600E mutation; and follow-up data were assessed to determine the prognostic relevance of the expression of hMutS (hMSH2, hMSH3, hMSH6) and Ki-67...
June 7, 2017: Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology
https://www.readbyqxmd.com/read/28669735/prenatal-diagnosis-of-caroli-disease-associated-with-autosomal-recessive-polycystic-kidney-disease-by-3-d-ultrasound-and-magnetic-resonance-imaging
#8
Pedro Teixeira Castro, Ana Paula Pinho Matos, Heron Werner, Pedro Daltro, Tatiana Fazecas, Renata Nogueira, Edward Araujo Júnior
BACKGROUND: Caroli disease is a very rare congenital anomaly characterized by non-obstructive saccular or fusiform dilatation of the intrahepatic bile ducts. It is associated with bile stagnation and hepatolithiasis, which explain the recurrent cholangitis and portal hypertension as a consequence of congenital liver fibrosis. Although there are several reports of diagnosis in childhood and adult life, the prenatal diagnosis using conventional 2-D ultrasound is rare, with few reports in the literature...
June 29, 2017: Journal of Obstetrics and Gynaecology Canada: JOGC, Journal D'obstétrique et Gynécologie du Canada: JOGC
https://www.readbyqxmd.com/read/28638817/a-challenging-case-of-hepatoblastoma-concomitant-with-autosomal-recessive-polycystic-kidney-disease-and-caroli-syndrome-review-of-the-literature
#9
Nevil Kadakia, Steven J Lobritto, Nadia Ovchinsky, Helen E Remotti, Darrell J Yamashiro, Jean C Emond, Mercedes Martinez
We report a rare case of an 18-month-old female with autosomal recessive polycystic kidney disease, Caroli syndrome, and pure fetal type hepatoblastoma. The liver tumor was surgically resected with no chemotherapy given. Now 9 years post resection she demonstrates no local or distant recurrence and stable renal function.
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/28633199/diffuse-type-caroli-disease-with-characteristic-central-dot-sign-complicated-by-multiple-intrahepatic-and-common-bile-duct-stones
#10
Moon Joo Hwang, Tae Nyeun Kim
Caroli disease (CD) is a rare congenital malformation of the liver characterized by non-obstructive, segmental, cystic dilatation of the intrahepatic bile ducts (IHDs). The clinical course is usually asymptomatic for the first 5-20 years, and symptoms may seldom occur throughout the patient's life. Bile stagnation leads to recurrent episodes of cholangitis, stone formation, or liver abscesses, and biliary cirrhosis usually occurs years later. Here we report on a 42-year-old man diagnosed with diffuse-type CD with a characteristic central dot sign, who had multiple intrahepatic and common bile duct (CBD) stones...
July 2017: Clinical Endoscopy
https://www.readbyqxmd.com/read/28621010/diversity-of-renal-phenotypes-in-patients-with-wdr19-mutations-two-case-reports
#11
Takahisa Yoshikawa, Koichi Kamei, Hiroko Nagata, Ken Saida, Mai Sato, Masao Ogura, Shuichi Ito, Osamu Miyazaki, Maki Urushihara, Shuji Kondo, Noriko Sugawara, Kiyonobu Ishizuka, Yuko Hamasaki, Seiichiro Shishido, Naoya Morisada, Kazumoto Iijima, Michio Nagata, Takako Yoshioka, Kentaro Ogata, Kenji Ishikura
WDR19 has been reported as a causative gene of nephronophthisis-related ciliopathies. Patients with WDR19 mutations can show various extrarenal manifestations such as skeletal disorders, Caroli disease, and retinal dystrophy, and typically display nephronophthisis as a renal phenotype. However, there is limited information on the renal phenotypes of patients with WDR19 mutations. We report two Japanese infants with Sensenbrenner syndrome caused by WDR19 mutations who demonstrated different features in renal ultrasound and histopathological results, despite several common extrarenal manifestations...
July 2017: Nephrology
https://www.readbyqxmd.com/read/28606758/transjugular-intrahepatic-portosystemic-shunt-in-a-patient-with-caroli-s-disease-and-portal-cavernoma
#12
Roberto Miraglia, Luigi Maruzzelli, Sarah Degiorgio, Angelo Luca
No abstract text is available yet for this article.
May 25, 2017: Digestive and Liver Disease
https://www.readbyqxmd.com/read/28579820/cannabis-and-intractable-chronic-pain-an-explorative-retrospective-analysis-of-italian-cohort-of-614-patients
#13
Guido Fanelli, Giuliano De Carolis, Claudio Leonardi, Adele Longobardi, Ennio Sarli, Massimo Allegri, Michael E Schatman
BACKGROUND: Despite growing interest in the therapeutic use of cannabis to manage chronic pain, only limited data that address these issues are available. In recent years, a number of nations have introduced specific laws to allow patients to use cannabis preparations to treat a variety of medical conditions. In 2015, the Italian government authorized the use of cannabis to treat several diseases, including chronic pain generally, spasticity in multiple sclerosis, cachexia and anorexia among AIDS and cancer patients, glaucoma, Tourette syndrome, and certain types of epilepsy...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28558028/kidney-volume-measurement-methods-for-clinical-studies-on-autosomal-dominant-polycystic-kidney-disease
#14
Kanishka Sharma, Anna Caroli, Le Van Quach, Katja Petzold, Michela Bozzetto, Andreas L Serra, Giuseppe Remuzzi, Andrea Remuzzi
BACKGROUND: In autosomal dominant polycystic kidney disease (ADPKD), total kidney volume (TKV) is regarded as an important biomarker of disease progression and different methods are available to assess kidney volume. The purpose of this study was to identify the most efficient kidney volume computation method to be used in clinical studies evaluating the effectiveness of treatments on ADPKD progression. METHODS AND FINDINGS: We measured single kidney volume (SKV) on two series of MR and CT images from clinical studies on ADPKD (experimental dataset) by two independent operators (expert and beginner), twice, using all of the available methods: polyline manual tracing (reference method), free-hand manual tracing, semi-automatic tracing, Stereology, Mid-slice and Ellipsoid method...
2017: PloS One
https://www.readbyqxmd.com/read/28515418/automatic-segmentation-of-kidneys-using-deep-learning-for-total-kidney-volume-quantification-in-autosomal-dominant-polycystic-kidney-disease
#15
Kanishka Sharma, Christian Rupprecht, Anna Caroli, Maria Carolina Aparicio, Andrea Remuzzi, Maximilian Baust, Nassir Navab
Autosomal Dominant Polycystic Kidney Disease (ADPKD) is the most common inherited disorder of the kidneys. It is characterized by enlargement of the kidneys caused by progressive development of renal cysts, and thus assessment of total kidney volume (TKV) is crucial for studying disease progression in ADPKD. However, automatic segmentation of polycystic kidneys is a challenging task due to severe alteration in the morphology caused by non-uniform cyst formation and presence of adjacent liver cysts. In this study, an automated segmentation method based on deep learning has been proposed for TKV computation on computed tomography (CT) dataset of ADPKD patients exhibiting mild to moderate or severe renal insufficiency...
May 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28357030/factors-associated-with-long-term-survival-after-liver-transplantation-a-retrospective-cohort-study
#16
Sven Pischke, Marie C Lege, Moritz von Wulffen, Antonio Galante, Benjamin Otto, Malte H Wehmeyer, Uta Herden, Lutz Fischer, Björn Nashan, Ansgar W Lohse, Martina Sterneck
AIM: To identify predictive factors associated with long-term patient and graft survival (> 15 years) in liver transplant recipients. METHODS: Medical charts of all de novo adult liver transplant recipients (n = 140) who were transplanted in Hamburg between 1997 and 1999 were retrospectively reviewed. In total, 155 transplantations were identified in this time period (15 re-transplantations). Twenty-six orthotopic liver transplant (OLT) recipients were early lost to follow-up due to moving to other places within 1 year after transplantation...
March 18, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28260452/unusual-indications-for-a-liver-transplant-a-single-center-experience
#17
Aydincan Akdur, Mahir Kirnap, Ebru H Ayvazoglu Soy, Figen Ozcay, Gokhan Moray, Gulnaz Arslan, Mehmet Haberal
OBJECTIVES: This study sought to evaluate the efficacy of liver transplant for unusual liver diseases. MATERIALS AND METHODS: The results of 476 patients who underwent liver transplant from 1988 to January 2015 were retrospectively analyzed. Two hundred forty-five of them were adult patients and 231 of them were pediatric. Thirty-one patients had unusual liver disease. RESULTS: Of the 31 patients with unusual liver disease, 9 (29%) were adult and 22 (71%) were pediatric patients...
February 2017: Experimental and Clinical Transplantation
https://www.readbyqxmd.com/read/28259747/exosome-based-immunomodulation-during-aging-a-nano-perspective-on-inflamm-aging
#18
REVIEW
Francesco Prattichizzo, Luigina Micolucci, Monica Cricca, Sabrina De Carolis, Emanuela Mensà, Antonio Ceriello, Antonio Domenico Procopio, Massimiliano Bonafè, Fabiola Olivieri
Exosomes are nanovesicles formed by inward budding of endosomal membranes. They exert complex immunomodulatory effects on target cells, acting both as antigen-presenting vesicles and as shuttles for packets of information like proteins, coding and non-coding RNA, and nuclear and mitochondrial DNA fragments. Albeit different, all such functions seem to be encompassed in the adaptive mechanism mediating the complex interactions of the organism with a variety of stressors, providing both for defense and for the evolution of symbiotic relationships with others organisms (gut microbiota, bacteria, and viruses)...
March 1, 2017: Mechanisms of Ageing and Development
https://www.readbyqxmd.com/read/28222436/recurrent-angioedema-occurrence-features-and-concomitant-diseases-in-an-italian-single-center-study
#19
Paola Triggianese, Maria Domenica Guarino, Chiara Pellicano, Mauro Borzi, Elisabetta Greco, Stella Modica, Caterina De Carolis, Roberto Perricone
BACKGROUND: Angioedema (AE) is a potentially life-threatening condition with hereditary (HAE), acquired (AAE), or iatrogenic causes. A careful workup allows for the identification of the etiology of attacks and the appropriate management. In this cohort study, based on a clinical practice setting, we aimed at investigating clinical and laboratory findings concerning different features of patients with recurrent AE who were referred to a single, tertiary-level center for HAE. METHODS: Clinical and laboratory data of patients fulfilling the criteria for C1-inhibitor-deficient HAE (C1-INH-HAE), C1-INH-AAE, angiotensin-converting enzyme inhibitor-related AE (ACEI-RA), and idiopathic AAE (I-AAE) were evaluated...
2017: International Archives of Allergy and Immunology
https://www.readbyqxmd.com/read/28212920/neonatal-lupus-follow-up-in-infants-with-anti-ssa-ro-antibodies-and-review-of-the-literature
#20
REVIEW
Antonio Alberto Zuppa, Riccardo Riccardi, Simonetta Frezza, Francesca Gallini, Rita Maria Paola Luciano, Giovanni Alighieri, Costantino Romagnoli, Sara De Carolis
Neonatal Lupus Syndrome (NLS) is a distinct clinical entity caused by transplacental passage of maternal anti-SSA/Ro antibodies (Ab). Mothers may have systemic lupus erythematosus, Sjögren syndrome, or other connective tissue disease, or may be completely healthy at the time of giving birth. NLS includes several clinical manifestations: complete congenital heart block (CCHB) and cutaneous lupus are the most common, while hepatobiliary disease, hematological manifestations and central nervous system involvement may occur...
April 2017: Autoimmunity Reviews
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