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https://www.readbyqxmd.com/read/29575286/planar-xanthomas-secondary-to-post-transplantation-cholangiopathy-in-a-16-month-old-boy
#1
Nirali Patel, Adam Norberg, Marcia Hogeling
Planar xanthomas in children represent rare dermatologic findings associated with abnormalities in lipid metabolism. While planar xanthomas in Alagille's syndrome have been well described in the literature, there have been no cases reported of eruptive xanthomas in pediatric liver transplant patients. Herein we report a case of a 16-month-old boy status post-liver transplantation who presents with planar xanthomas secondary to cholangiopathy. A brief review of xanthomas and the related literature is also provided...
March 25, 2018: Pediatric Dermatology
https://www.readbyqxmd.com/read/29557611/renal-manifestations-in-children-with-alagille-syndrome
#2
Diana Di Pinto, Marta Adragna
INTRODUCTION: Alagille syndrome (AS) is a cholestatic disease secondary to scarcity of interlobular bile ducts. It is associated with extrahepatic manifestations, and renal involvement is frequent. OBJECTIVES: To describe the prevalence, type and outcome of renal pathology in children with AS. PATIENTS AND METHODS: The presence and outcome of renal pathology was retrospectively studied in 21 children who met AS criteria. RESULTS: Renal pathology was observed in 18 patients (85...
April 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29543694/systematic-review-the-epidemiology-natural-history-and-burden-of-alagille-syndrome
#3
B M Kamath, A Baker, R Houwen, L Todorova, N Kerkar
BACKGROUND: Alagille syndrome (ALGS) is an inherited multisystem disorder typically manifesting as cholestasis, and potentially leading to end-stage liver disease and death. AIM: To perform the first systematic review of the epidemiology, natural history and burden of ALGS with a focus on the liver component. METHODS: Electronic databases and proceedings from key congresses were searched in accordance with Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) 2009 guidelines...
March 14, 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29536580/clinical-application-of-targeted-next-generation-sequencing-on-fetuses-with-congenital-heart-defects
#4
Ping Hu, Fengchang Qiao, Yan Wang, Lulu Meng, Xiuqing Ji, Chunyu Luo, Tianhui Xu, Ran Zhou, Jingjing Zhang, Bin Yu, Leilei Wang, Ting Wang, Qiong Pan, Dingyuan Ma, Dong Liang, Zhengfeng Xu
OBJECTIVES: This study aimed to determine the diagnostic yield of targeted next-generation sequencing (NGS) in prenatal diagnosis of congenital heart defects (CHDs) and for investigating the possible genetic etiology of prenatal CHD cases. METHODS: Forty-four fetuses with CHDs and normal molecular karyotypes underwent targeted NGS in this study. Fetal genomic DNA was directly extracted from amniotic fluid cells in each prenatal case. A customized targeted NGS panel containing 77 CHD-associated genes was designed to detect variants in the coding regions and the splicing sites of these genes...
March 13, 2018: Ultrasound in Obstetrics & Gynecology
https://www.readbyqxmd.com/read/29530693/anterior-unilateral-plagiocephaly-treatment-in-patient-with-alagille-syndrome-a-case-report
#5
Jose María Narro-Donate, Paddy Méndez-Román, Antonio Huete-Allut, Jose Alberto Escribano-Mesa, Mario Gomar-Alba, Ascensión Contreras-Jiménez, Francisco Pedrero-García, Jose Masegosa-González
BACKGROUND: The polymalformative syndromes and craniofacial anomalies association is a well-known phenomenon in patients with Crouzon's, Pfeiffer, Apert or Muenke disease. Recently, other less frequent pathologies, such as Alagille syndrome, are showing an association with alterations in the development of cranial sutures resulting in serious cosmetic defects and neurological disorders. CASE DESCRIPTION: The authors report an exceptional case of a 30-month-old girl, nephroblastoma survivor, diagnosed with Alagille syndrome who is referred to our department with progressive anterior plagiocephaly and premature left coronal suture closure associated with a large compensating right bossing...
March 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29516774/hepatic-adenoma-arising-in-a-patient-with-alagille-syndrome-a-case-report
#6
M Cristina Pacheco, Eric J Monroe, Simon P Horslen
Alagille syndrome is associated with decreased bile ducts, cardiac abnormalities, vertebral body fusion defects, and a typical facies. While regenerative nodules and hepatocellular carcinoma have been described in these patients, hepatic adenoma has not. Herein, we present a patient with Alagille syndrome caused by a mutation in NOTCH2 with a hepatic adenoma. The clinical, imaging, and histologic features are discussed.
January 1, 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29465555/two-cases-of-dieulafoy-lesions-of-the-bronchus-with-novel-comorbid-associations-and-endobronchial-ablative-management
#7
Hardik S Sheth, Fabien Maldonado, Robert J Lentz
RATIONALE: Dieulafoy lesions are aberrantly large submucosal arteries most frequently associated with gastrointestinal hemorrhage. They are rarely identified in the bronchial submucosa and can cause massive hemoptysis. PATIENT CONCERNS: We present three episodes of massive hemoptysis in two patients, the first with comorbid Alagille syndrome including multiple cardiac and pulmonary vascular abnormalities and the second with thyroid cancer metastatic to the mediastinum...
February 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29425927/a-new-model-of-alagille-syndrome-with-broad-phenotypic-representation
#8
EDITORIAL
Joshua M Adams, Hamed Jafar-Nejad
No abstract text is available yet for this article.
February 6, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29362841/spectrum-of-cerebral-arterial-and-venous-abnormalities-in-alagille-syndrome
#9
Candice D Carpenter, Luke L Linscott, James L Leach, Sudhakar Vadivelu, Todd Abruzzo
BACKGROUND: Alagille syndrome is a pediatric multisystem disease with increased prevalence of cerebrovascular disease. The spectrum of cerebrovascular disease in Alagille syndrome includes cerebral aneurysms, moyamoya arteriopathy and dolichoectasia. The prevalence of cerebrovascular disease in Alagille syndrome varies widely in the literature. OBJECTIVE: To determine the prevalence of cerebrovascular disease in our institution's Alagille patient population by employing a full primary review of all available neuroimaging...
April 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29318215/extreme-renal-pathology-in-alagille-syndrome
#10
Mei Lin Z Bissonnette, Jerome C Lane, Anthony Chang
No abstract text is available yet for this article.
May 2017: KI Reports
https://www.readbyqxmd.com/read/29240010/well-preserved-renal-function-in-children-with-untreated-chronic-liver-disease
#11
Ulla B Berg, Antal Németh
OBJECTIVES: On the basis of studies with hepatorenal syndrome, it is widely regarded that renal function is impacted in chronic liver disease (CLD). Therefore, we investigated renal function in children with CLD. METHODS: In a retrospective study of 277 children with CLD, renal function was investigated as glomerular filtration rate (GFR) and effective renal plasma flow (ERPF), measured as clearance of inulin and para-amino hippuric acid or clearance of iohexol...
April 2018: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/29235546/experimental-model-a-new-mouse-model-of-alagille-syndrome
#12
Iain Dickson
No abstract text is available yet for this article.
January 2018: Nature Reviews. Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/29194961/computational-simulation-of-postoperative-pulmonary-flow-distribution-in-alagille-patients-with-peripheral-pulmonary-artery-stenosis
#13
Weiguang Yang, Frank L Hanley, Frandics P Chan, Alison L Marsden, Irene E Vignon-Clementel, Jeffrey A Feinstein
BACKGROUND: Up to 90% of individuals with Alagille syndrome have congenital heart diseases. Peripheral pulmonary artery stenosis (PPS), resulting in right ventricular hypertension and pulmonary flow disparity, is one of the most common abnormalities, yet the hemodynamic effects are ill-defined, and optimal patient management and treatment strategies are not well established. The purpose of this pilot study is to use recently refined computational simulation in the setting of multiple surgical strategies, to examine the influence of pulmonary artery reconstruction on hemodynamics in this population...
December 1, 2017: Congenital Heart Disease
https://www.readbyqxmd.com/read/29187043/an-atypical-presentation-of-alagille-syndrome
#14
Katherine Y Wu, Amanda L Treece, Pierre A Russo, Jessica W Wen
Alagille syndrome is a multisystem disorder classically involving the liver, heart, vertebrae, facial features, and the eyes. In this case report, we document a case of Alagille syndrome with an atypical clinical and histopathologic presentation and subsequent identification of a novel JAG1 missense mutation. This case highlights that there may be both atypical clinical and pathologic findings in mutation-proven Alagille syndrome and that the diagnosis of Alagille syndrome should be considered in cases of ongoing bile duct damage in the setting of early-onset jaundice, cholestasis, hepatosplenomegaly, posterior embryotoxon in the eyes, and butterfly vertebrae...
January 2018: Pediatric and Developmental Pathology
https://www.readbyqxmd.com/read/29185945/alagille-syndrome-an-overview
#15
Dalacy Jesina
Alagille syndrome (AGS) is a highly complex, multisystem, autosomal dominant disorder that is caused by a defect in the Notch signaling pathway. This syndrome mainly affects the liver, causing significant cholestasis, which is caused by a paucity of intrahepatic bile ducts. There can be cardiac involvement, including, but not limited to, pulmonary stenosis and tetralogy of Fallot. Patients can also present with butterfly vertebra, ocular issues, and vascular events. Because this syndrome follows an autosomal dominant inheritance, it can have variable expression even in the same family line...
November 1, 2017: Neonatal Network: NN
https://www.readbyqxmd.com/read/29162437/mouse-model-of-alagille-syndrome-and-mechanisms-of-jagged1-missense-mutations
#16
Emma R Andersson, Indira V Chivukula, Simona Hankeova, Marika Sjöqvist, Yat Long Tsoi, Daniel Ramsköld, Jan Masek, Aiman Elmansuri, Anita Hoogendoorn, Elenae Vazquez, Helena Storvall, Julie Netušilová, Meritxell Huch, Björn Fischler, Ewa Ellis, Adriana Contreras, Antal Nemeth, Kenneth C Chien, Hans Clevers, Rickard Sandberg, Vitezslav Bryja, Urban Lendahl
BACKGROUND & AIMS: Alagille syndrome is a genetic disorder characterized by cholestasis, ocular abnormalities, characteristic facial features, heart defects, and vertebral malformations. Most cases are associated with mutations in JAGGED1 (JAG1), which encodes a Notch ligand, although it is not clear how these contribute to disease development. We aimed to develop a mouse model of Alagille syndrome to elucidate these mechanisms. METHODS: Mice with a missense mutation (H268Q) in Jag1 (Jag1+/Ndr mice) were outbred to a C3H/C57bl6 background to generate a mouse model for Alagille syndrome (Jag1Ndr/Ndr mice)...
November 20, 2017: Gastroenterology
https://www.readbyqxmd.com/read/29046208/-clinical-and-genetic-study-of-an-infant-with-alagille-syndrome-identification-of-a-novel-chromosomal-interstitial-deletion-including-jag1-gene
#17
Hua Li, Jia-Jia Liu, Mei Deng, Li Guo, Ying Cheng, Yuan-Zong Song
Alagille syndrome (ALGS) is an autosomal dominant disease affecting multiple systems including the liver, heart, skeleton, eyes, kidneys and face. This paper reports the clinical and genetic features of an infant with this disease. A 3-month-and-10-day-old female infant was referred to the hospital with jaundiced skin and sclera for 3 months. Physical examination revealed wide forehead and micromandible. A systolic murmur of grade 3-4/6 was heard between the 2th and 3th intercostal spaces on the left side of the sternum...
October 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28974684/endoderm-jagged-induces-liver-and-pancreas-duct-lineage-in-zebrafish
#18
Danhua Zhang, Keith P Gates, Lindsey Barske, Guangliang Wang, Joseph J Lancman, Xin-Xin I Zeng, Megan Groff, Kasper Wang, Michael J Parsons, J Gage Crump, P Duc Si Dong
Liver duct paucity is characteristic of children born with Alagille Syndrome (ALGS), a disease associated with JAGGED1 mutations. Here, we report that zebrafish embryos with compound homozygous mutations in two Notch ligand genes, jagged1b (jag1b) and jagged2b (jag2b) exhibit a complete loss of canonical Notch activity and duct cells within the liver and exocrine pancreas, whereas hepatocyte and acinar pancreas development is not affected. Further, animal chimera studies demonstrate that wild-type endoderm cells within the liver and pancreas can rescue Notch activity and duct lineage specification in adjacent cells lacking jag1b and jag2b expression...
October 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/28922972/perioperative-anesthetic-management-of-patients-having-liver-transplantation-for-uncommon-conditions
#19
Anthony Bonavia, Justin Pachuski, Dmitri Bezinover
This review focuses on the perioperative anesthetic management of patients having liver transplantation (LT) performed for several uncommon indications or in combination with rare pathology. Conditions discussed in the article include Alagille syndrome, hypertrophic cardiomyopathy, Gilbert's syndrome, porphyria, Wilson's disease, and Budd-Chiari syndrome. In comparison to other indications, LT in these settings is infrequent because of the low incidence of these pathologies. Most of these conditions (with the exception of Gilbert syndrome) are associated with a high probability of significant perioperative complications and increased mortality and morbidity...
September 1, 2017: Seminars in Cardiothoracic and Vascular Anesthesia
https://www.readbyqxmd.com/read/28901437/implementing-targeted-region-capture-sequencing-for-the-clinical-detection-of-alagille-syndrome-an-efficient-and-cost%C3%A2-effective-method
#20
Tianhong Huang, Guilin Yang, Xiao Dang, Feijian Ao, Jiankang Li, Yizhou He, Qiyuan Tang, Qing He
Alagille syndrome (AGS) is a highly variable, autosomal dominant disease that affects multiple structures including the liver, heart, eyes, bones and face. Targeted region capture sequencing focuses on a panel of known pathogenic genes and provides a rapid, cost‑effective and accurate method for molecular diagnosis. In a Chinese family, this method was used on the proband and Sanger sequencing was applied to validate the candidate mutation. A de novo heterozygous mutation (c.3254_3255insT p.Leu1085PhefsX24) of the jagged 1 gene was identified as the potential disease‑causing gene mutation...
November 2017: Molecular Medicine Reports
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