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Caroli disease

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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
#1
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
#2
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...
June 20, 2017: Clinical Endoscopy
https://www.readbyqxmd.com/read/28621010/diversity-of-renal-phenotypes-in-patients-with-wdr19-mutations-two-case-reports
#3
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
#4
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
#5
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
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/28202520/evolution-of-cancer-stem-like-cells-in-endocrine-resistant-metastatic-breast-cancers-is-mediated-by-stromal-microvesicles
#13
Pasquale Sansone, Marjan Berishaj, Vinagolu K Rajasekhar, Claudio Ceccarelli, Qing Chang, Antonio Strillacci, Claudia Savini, Lauren Shapiro, Robert L Bowman, Chiara Mastroleo, Sabrina De Carolis, Laura Daly, Alberto Benito-Martin, Fabiana Perna, Nicola Fabbri, John H Healey, Enzo Spisni, Monica Cricca, David Lyden, Massimiliano Bonafé, Jacqueline Bromberg
The hypothesis that microvesicle-mediated miRNA transfer converts noncancer stem cells into cancer stem cells (CSC) leading to therapy resistance remains poorly investigated. Here we provide direct evidence supporting this hypothesis, by demonstrating how microvesicles derived from cancer-associated fibroblasts (CAF) transfer miR-221 to promote hormonal therapy resistance (HTR) in models of luminal breast cancer. We determined that CAF-derived microvesicles horizontally transferred miR-221 to tumor cells and, in combination with hormone therapy, activated an ER(lo)/Notch(hi) feed-forward loop responsible for the generation of CD133(hi) CSCs...
April 15, 2017: Cancer Research
https://www.readbyqxmd.com/read/28107787/hiv-rapid-testing-in-the-framework-of-an-sti-prevention-project-on-a-cohort-of-vulnerable-italians-and-immigrants
#14
Ilaria Uccella, Alessio Petrelli, Maria Fenicia Vescio, Silvia De Carolis, Cecilia Fazioli, Patrizio Pezzotti, Gianni Rezza
INTRODUCTION: Uptake of HIV tests is a challenging issue in vulnerable populations including immigrants, normally using standard diagnostic tools. Objectives of this study were to evaluate the acceptability of HIV rapid test; estimate the percentage of newly HIV diagnoses and evaluate knowledge, attitudes and perception (KAP) about HIV/AIDS and other STIs in a specific set of immigrants and vulnerable population in Rome (Italy). METHODS: All immigrant and Italian people, aged 16-70 years, attending the infectious disease outpatient clinic of the National Institute for Health, Migration and Poverty (INMP) in Rome (Italy), during the period December 2012 to December 2013 were enrolled...
January 20, 2017: AIDS Care
https://www.readbyqxmd.com/read/27858902/accessory-gallbladder-in-an-intrahepatic-location-mimicking-a-cystic-tumor-of-the-liver-a-case-report
#15
Ji-Hye Won, Seo-Youn Choi, Hae Kyung Lee, Boem Ha Yi, Min Hee Lee, Min Jung Jung
BACKGROUND: Double gallbladder (GB) is a rare congenital anomaly of the biliary system characterized by the presence of an accessory GB. CLINICAL FINDINGS: A 38-year-old female presented with a history of right upper quadrant (RUQ) pain. Computed tomography (CT) showed a lobulated cystic mass involving the center portion of liver. Magnetic resonance imaging (MRI) additionally revealed a tubular structure of T2 bright signal intensity (SI), which connected the cystic lesion of the liver to the bile duct...
November 2016: Medicine (Baltimore)
https://www.readbyqxmd.com/read/27837519/molecular-detection-of-resistance-to-azole-components
#16
Brunella Posteraro, Antonietta Vella, Elena De Carolis, Maurizio Sanguinetti
Fungal infections have increased significantly in the last few years, and their outcomes are in part complicated by the emergence of antifungal drug-resistant pathogens. Together with Candida species, the mould Aspergillus fumigatus is one of the most prevalent organisms to cause invasive fungal disease. The molecular detection of (tri)azole resistance in both Candida and Aspergillus species may represent a useful means of monitoring the incidence of clinical isolates with antifungal resistance-associated gene alterations...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27837518/molecular-detection-of-resistance-to-echinocandins
#17
Brunella Posteraro, Antonietta Vella, Elena De Carolis, Maurizio Sanguinetti
In the last years, life-threatening fungal diseases have increased significantly, due to the rising number of human individuals susceptible to fungal infections, which are in part complicated by the emergence of antifungal drug-resistant pathogens. Among yeasts, Candida albicans and Candida glabrata are the most common organisms responsible for invasive fungal diseases. The molecular detection of echinocandin resistance in Candida species may represent a useful means of monitoring the incidence of clinical isolates with antifungal resistance-associated gene alterations...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27746440/recurrent-cholangitis-in-a-patient-with-autosomal-dominant-polycystic-kidney-disease-adpkd-and-caroli-s-disease
#18
Eiko Hasegawa, Naoki Sawa, Junichi Hoshino, Tatsuya Suwabe, Noriko Hayami, Masayuki Yamanouchi, Akinari Sekine, Rikako Hiramatsu, Aya Imafuku, Masahiro Kawada, Yoshifumi Ubara, Tsunao Imamura, Kenmei Takaichi
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...
2016: Internal Medicine
https://www.readbyqxmd.com/read/27668356/cortical-sources-of-resting-state-eeg-rhythms-are-related-to-brain-hypometabolism-in-subjects-with-alzheimer-s-disease-an-eeg-pet-study
#19
Claudio Babiloni, Claudio Del Percio, Anna Caroli, Elena Salvatore, Emanuele Nicolai, Nicola Marzano, Roberta Lizio, Enrica Cavedo, Susan Landau, Kewei Chen, William Jagust, Eric Reiman, Gioacchino Tedeschi, Patrizia Montella, Manuela De Stefano, Loreto Gesualdo, Giovanni B Frisoni, Andrea Soricelli
Cortical sources of resting state electroencephalographic (EEG) delta (2-4 Hz) and low-frequency alpha (8-10.5 Hz) rhythms show abnormal activity (i.e., current density) in patients with dementia due to Alzheimer's disease (AD). Here, we hypothesized that abnormality of this activity is related to relevant disease processes as revealed by cortical hypometabolism typically observed in AD patients by fluorodeoxyglucose positron emission tomography. Resting state eyes-closed EEG data were recorded in 19 AD patients with dementia and 40 healthy elderly (Nold) subjects...
December 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/27658827/the-transition-from-intra-to-extra-uterine-life-in-late-preterm-infant-a-single-center-study
#20
M P De Carolis, G Pinna, C Cocca, S A Rubortone, C Romagnoli, I Bersani, S Salvi, A Lanzone, S De Carolis
BACKGROUND: Infants born at 34 to 36 weeks of gestation (late preterm) are at greater risk for adverse outcomes than those born at 37 weeks of gestation or later. Aim of this paper is to examine risk factors for late preterm births and to investigate the complications of the transition period in late preterm infants (LPIs). METHODS: All consecutive late preterm deliveries, excluded stillbirths, were included. Maternal and neonatal data, need for delivery room resuscitative procedures, temperature at birth (T1) and two hours after the admission (T2) were analyzed in all LPIs stratified by Gestational Age (GA) and divided into three groups (34, 35 and 36 weeks)...
September 22, 2016: Italian Journal of Pediatrics
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