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Caroli disease

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
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...
August 31, 2016: Neurobiology of Aging
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)...
2016: Italian Journal of Pediatrics
Elisabetta Schiaroli, Maria Bruna Pasticci, Elena De Carolis, Enrica Mello, Carlo Pallotto, Christian Leli, Giuseppe Vittorio De Socio, Franco Baldelli, Maurizio Sanguinetti, Antonella Mencacci
Infections by Nocardia spp. are generally regarded as opportunistic diseases in immunocompromised patients, but can also affect immunocompetent subjects. Such infections represent an important diagnostic challenge for clinicians and microbiologists, and diagnosis is frequently delayed or even conducted post mortem. A 54-year-old man was admitted to our hospital because of ventriculitis and relapsing brain abscess. Five months prior, this patient had undergone external ventricular drain and surgery for a cerebellar abscess...
June 1, 2016: Le Infezioni in Medicina
Michele Vitacca, Mara Paneroni, Paola Baiardi, Vito De Carolis, Elisabetta Zampogna, Stefano Belli, Mauro Carone, Antonio Spanevello, Bruno Balbi, Giorgio Bertolotti
BACKGROUND: As Barthel Index (BI) quantifies motor impairment but not breathlessness, the use of only this index could underestimate disability in chronic respiratory disease (CRD). To our knowledge, no study evaluates both motor and respiratory disability in CRD during activities of daily living (ADLs) simultaneously and with a unique tool. The objective of this study was to propose for patients with CRD an additional tool for dyspnea assessment during ADLs based on BI items named Barthel Index dyspnea...
2016: International Journal of Chronic Obstructive Pulmonary Disease
Hans-Jörg Meisel, Lubomír Jurák, Jussi Antinheimo, Ricardo Arregui, Bernhard Bruchmann, Mario Čabraja, Fabrizio Caroli, Stefan Kroppenstedt, Jan Kryl, Juha Pohjola, Ian Shackleford, Steffen Sola, Peter Stosberg, Jan Stulik, Christian Woiciechowsky, Petr Suchomel
OBJECTIVE Recent studies have described encouraging outcomes after cervical total disc replacement (cTDR), but there are also critical debates regarding the long-term effects of heterotopic ossification (HO) and the prevalence of adjacent-level degeneration. The aim in this paper was to provide 4-year clinical and radiographic outcome results on the activ C disc prosthesis. METHODS A total of 200 subjects underwent single-level activ C (Aesculap AG) implantation between C-3 and C-7 for the treatment of symptomatic degenerative disc disease...
June 3, 2016: Journal of Neurosurgery. Spine
Giovanni Marfia, Stefania Elena Navone, Claudia Fanizzi, Silvia Tabano, Chiara Pesenti, Loubna Abdel Hadi, Andrea Franzini, Manuela Caroli, Monica Miozzo, Laura Riboni, Paolo Rampini, Rolando Campanella
Circulating biomarker for malignant gliomas could improve both differential diagnosis and clinical management of brain tumor patients. Among all gliomas, glioblastoma (GBM) is considered the most hypervascularized tumor with activation of multiple proangiogenic signaling pathways that enhance tumor growth. To investigate whether preoperative antigen plasma level of von Willebrand Factor (VWF:Ag) might be possible marker for GBM onset, progression, and prognosis, we retrospectively examined 57 patients with histological diagnosis for GBM and 23 meningiomas (MNGs), benign intracranial expansive lesions, enrolled as controls...
August 2016: Cancer Medicine
Paola Triggianese, Carlo Perricone, Maria Sole Chimenti, Caterina De Carolis, Roberto Perricone
The maternal-fetal interface is an immunologically unique site that allows the tolerance to the allogenic fetus and maintains host defense against possible pathogens. Balanced immune responses are required for the maintenance of successful pregnancy. It has been demonstrated that innate immune disturbances may be responsible for some adverse pregnancy outcomes such as preeclampsia (PE); hemolysis, elevated liver enzymes, low platelets (HELLP) syndrome; intrauterine growth restriction (IUGR); and recurrent spontaneous abortion (RSA)...
October 2016: American Journal of Reproductive Immunology: AJRI
Francesco Prattichizzo, Angelica Giuliani, Rina Recchioni, Massimiliano Bonafè, Fiorella Marcheselli, Sabrina De Carolis, Anna Campanati, Katia Giuliodori, Maria Rita Rippo, Francesca Brugè, Luca Tiano, Carla Micucci, Antonio Ceriello, Annamaria Offidani, Antonio Domenico Procopio, Fabiola Olivieri
Endothelial cell senescence is characterized by acquisition of senescence-associated secretory phenotype (SASP), able to promote inflammaging and cancer progression. Emerging evidence suggest that preventing SASP development could help to slow the rate of aging and the progression of age-related diseases, including cancer. Aim of this study was to evaluate whether and how adalimumab, a monoclonal antibody directed against tumor necrosis factor-α (TNF-α), a major SASP component, can prevent the SASP. A three-pronged approach has been adopted to assess the if adalimumab is able to: i) modulate a panel of classic and novel senescence- and SASP-associated markers (interleukin [IL]-6, senescence associated-β-galactosidase, p16/Ink4a, plasminogen activator inhibitor 1, endothelial nitric oxide synthase, miR-146a-5p/Irak1 and miR-126-3p/Spred1) in human umbilical vein endothelial cells (HUVECs); ii) reduce the paracrine effects of senescent HUVECs' secretome on MCF-7 breast cancer cells, through wound healing and mammosphere assay; and iii) exert significant decrease of miR-146a-5p and increase of miR-126-3p in circulating angiogenic cells (CACs) from psoriasis patients receiving adalimumab in monotherapy...
March 15, 2016: Oncotarget
Piero Ruggenenti, Giorgio Gentile, Norberto Perico, Annalisa Perna, Luca Barcella, Matias Trillini, Monica Cortinovis, Claudia Patricia Ferrer Siles, Jorge Arturo Reyes Loaeza, Maria Carolina Aparicio, Giorgio Fasolini, Flavio Gaspari, Davide Martinetti, Fabiola Carrara, Nadia Rubis, Silvia Prandini, Anna Caroli, Kanishka Sharma, Luca Antiga, Andrea Remuzzi, Giuseppe Remuzzi
BACKGROUND AND OBJECTIVES: The effect of mammalian target of rapamycin (mTOR) inhibitors has never been tested in patients with autosomal dominant polycystic kidney disease (ADPKD) and severe renal insufficiency. DESIGN, SETTING, PARTICIPANTS, & MEASUREMENTS: In this academic, prospective, randomized, open label, blinded end point, parallel group trial ( no. NCT01223755), 41 adults with ADPKD, CKD stage 3b or 4, and proteinuria ≤0.5 g/24 h were randomized between September of 2010 and March of 2012 to sirolimus (3 mg/d; serum target levels of 5-10 ng/ml) added on to conventional therapy (n=21) or conventional treatment alone (n=20)...
May 6, 2016: Clinical Journal of the American Society of Nephrology: CJASN
Natalia Vittar, Marcelo Corti, Rubén Solari, Luis de Carolis, Olga Figueiras, Jorge Velásquez, Esteban Maronna
Brunner's gland adenoma is a rare neoplasm that accounts for only the 0.008% of all benign duodenal tumors. Here we describe the case ofan HIV-seropositive man who developed a severe pyloric stenosis due to a Brunner's adenoma of the bulb and the first duodenal portion. Gastroduodenoscopy showed a large polypoid tumor that obstructed the pyloric region. The lesion was resected by surgery and a gastroduodenal anastomosis was made. The histopathologic examination of the surgical specimen showed a large proliferation of Brunner's glands into a large pedunculated polyp that confirmed the diagnosis of this hamartoma...
2014: Acta Gastroenterologica Latinoamericana
Roger Stupp, Sophie Taillibert, Andrew A Kanner, Santosh Kesari, David M Steinberg, Steven A Toms, Lynne P Taylor, Frank Lieberman, Antonio Silvani, Karen L Fink, Gene H Barnett, Jay-Jiguang Zhu, John W Henson, Herbert H Engelhard, Thomas C Chen, David D Tran, Jan Sroubek, Nam D Tran, Andreas F Hottinger, Joseph Landolfi, Rajiv Desai, Manuela Caroli, Yvonne Kew, Jerome Honnorat, Ahmed Idbaih, Eilon D Kirson, Uri Weinberg, Yoram Palti, Monika E Hegi, Zvi Ram
IMPORTANCE: Glioblastoma is the most devastating primary malignancy of the central nervous system in adults. Most patients die within 1 to 2 years of diagnosis. Tumor-treating fields (TTFields) are a locoregionally delivered antimitotic treatment that interferes with cell division and organelle assembly. OBJECTIVE: To evaluate the efficacy and safety of TTFields used in combination with temozolomide maintenance treatment after chemoradiation therapy for patients with glioblastoma...
December 15, 2015: JAMA: the Journal of the American Medical Association
P Triggianese, C Perricone, P Conigliaro, M S Chimenti, R Perricone, C De Carolis
Abnormalities in peripheral blood natural killer (NK) cells have been reported in women with primary infertility and recurrent spontaneous abortion (RSA) and several studies have been presented to define cutoff values for abnormal peripheral blood NK cell levels in this context. Elevated levels of NK cells were observed in infertile/RSA women in the presence of thyroid autoimmunity (TAI), while no studies have been carried out, to date, on NK cells in infertile/RSA women with non-autoimmune thyroid diseases...
March 2016: International Journal of Immunopathology and Pharmacology
Annarita Ianniello, Maddalena Sansovini, Stefano Severi, Silvia Nicolini, Chiara Maria Grana, Katrin Massri, Alberto Bongiovanni, Lorenzo Antonuzzo, Valentina Di Iorio, Anna Sarnelli, Paola Caroli, Manuela Monti, Emanuela Scarpi, Giovanni Paganelli
PURPOSE: Typical and atypical carcinoids (TC and AC) represent 20 - 25 % of all neuroendocrine tumours. No standard therapeutic approach is available for patients with advanced disease. The aim of this phase II study was to investigate the efficacy and safety of peptide receptor radionuclide therapy with (177)Lu-DOTATATE (Lu-PRRT) and the role of thyroid transcription factor 1 (TTF-1) and (18)F-FDG PET as prognostic factors in patients with advanced TC or AC. METHODS: A total of 34 consecutive patients with radiologically documented progressive disease were treated with Lu-PRRT at a therapeutic cumulative activity of 18...
June 2016: European Journal of Nuclear Medicine and Molecular Imaging
Priscila S Salvadori, Ulysses S Torres, Giuseppe D'Ippolito
No abstract text is available yet for this article.
November 17, 2015: Gastroenterología y Hepatología
Dianbo Qu, Ali Hage, Katie Don-Carolis, En Huang, Alvin Joselin, Farzaneh Safarpour, Paul C Marcogliese, Maxime W C Rousseaux, Sarah J Hewitt, Tianwen Huang, Doo-Soon Im, Steve Callaghan, Danielle Dewar-Darch, Daniel Figeys, Ruth S Slack, David S Park
Emerging evidence has demonstrated a growing genetic component in Parkinson disease (PD). For instance, loss-of-function mutations in PINK1 or PARKIN can cause autosomal recessive PD. Recently, PINK1 and PARKIN have been implicated in the same signaling pathway to regulate mitochondrial clearance through recruitment of PARKIN by stabilization of PINK1 on the outer membrane of depolarized mitochondria. The precise mechanisms that govern this process remain enigmatic. In this study, we identify Bcl2-associated athanogene 2 (BAG2) as a factor that promotes mitophagy...
December 18, 2015: Journal of Biological Chemistry
L Pech, S Favelier, M T Falcoz, R Loffroy, D Krause, J P Cercueil
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...
April 2016: Diagnostic and Interventional Imaging
Marta Rusmini, Silvia Federici, Francesco Caroli, Alice Grossi, Maurizia Baldi, Laura Obici, Antonella Insalaco, Alberto Tommasini, Roberta Caorsi, Eleonora Gallo, Alma Nunzia Olivieri, AngeloValerio Marzano, Domenico Coviello, Roberto Ravazzolo, Alberto Martini, Marco Gattorno, Isabella Ceccherini
OBJECTIVES: Systemic auto-inflammatory disorders (SAIDs) are a heterogeneous group of monogenic diseases sharing a primary dysfunction of the innate immune system. More than 50% of patients with SAID does not show any mutation at gene(s) tested because of lack of precise clinical classification criteria and/or incomplete gene screening. To improve the molecular diagnosis and genotype interpretation of SAIDs, we undertook the development of a next-generation sequencing (NGS)-based protocol designed to simultaneous screening of 10 genes...
August 2016: Annals of the Rheumatic Diseases
Jean-Benoît Courcet, Anne Minello, Fabienne Prieur, Laurent Morisse, Jean-Marc Phelip, Alain Beurdeley, Daniel Meynard, Denis Massenet, Flore Lacassin, Yannis Duffourd, Nadège Gigot, Judith St-Onge, Patrick Hillon, Claire Vanlemmens, Christiane Mousson, Jean-Pierre Cerceuil, Boris Guiu, Julien Thevenon, Christel Thauvin-Robinet, Emmanuel Jacquemin, Jean-Baptiste Rivière, Laurence Michel-Calemard, Laurence Faivre
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...
December 2015: American Journal of Medical Genetics. Part A
Quirino Lai, Jan Lerut
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...
January 2016: Clinical Transplantation
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