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https://www.readbyqxmd.com/read/28749707/imaging-findings-of-alagille-syndrome-in-young-infants-differentiation-from-biliary-atresia
#1
Solbee Han, Tae Yeon Jeon, Sook Min Hwang, So-Young Yoo, Yon Ho Choe, Suk-Koo Lee, Ji Hye Kim
OBJECTIVES: To compare the imaging findings using ultrasonography, MR cholangiopancreatography (MRCP), and intraoperative cholangiography (IOC) between Alagille syndrome (AGS) and biliary atresia (BA) in young infants with cholestatic jaundice. METHODS: The institutional review board approved this retrospective study. Ultrasonography (n = 55), MRCP (n = 33), and IOC (n = 22) studies were performed in 55 infants (all younger than 3 months) with AGS (n = 7) and BA (n = 48)...
July 27, 2017: British Journal of Radiology
https://www.readbyqxmd.com/read/28734329/leptochoroid-in-a-case-of-alagille-syndrome-arteriohepatic-dysplasia
#2
Jen-Hsiang Shen, Kuan-Jen Chen, Nan-Kai Wang
No abstract text is available yet for this article.
August 2017: Ophthalmology
https://www.readbyqxmd.com/read/28710680/development-of-a-novel-tool-to-assess-the-impact-of-itching-in-pediatric-cholestasis
#3
Binita M Kamath, Linda Abetz-Webb, Ciara Kennedy, Bonnie Hepburn, Martha Gauthier, Nathan Johnson, Sharon Medendorp, Alejandro Dorenbaum, Lora Todorova, Benjamin L Shneider
OBJECTIVES: The aim was to develop a clinical outcome assessment (COA) for itching in children with cholestatic pruritus. METHODS: This prospective study aimed to enroll patients aged 4-30 years with Alagille syndrome (ALGS) or progressive familial intrahepatic cholestasis type 1 and caregivers of patients aged 5 months to 14 years. Eligible patients experienced itching during ≥3 of the 7 days before enrollment and had not undergone liver transplant or surgical interruption of the enterohepatic circulation...
July 14, 2017: Patient
https://www.readbyqxmd.com/read/28695677/combined-genetic-analyses-can-achieve-efficient-diagnostic-yields-for-subjects-with-alagille-syndrome-and-incomplete-alagille-syndrome
#4
Kei Ohashi, Takao Togawa, Tokio Sugiura, Koichi Ito, Takeshi Endo, Kohei Aoyama, Yutaka Negishi, Toyoichiro Kudo, Reiko Ito, Shinji Saitoh
AIM: We evaluated combined genetic analyses with targeted next-generation sequencing (NGS), multiplex ligation probe amplification (MLPA) of Jagged1 (JAG1) genes and microarray comparative genomic hybridisation (CGH) in subjects with Alagille syndrome, incomplete clinical features of Alagille syndrome and biliary atresia. METHODS: Subjects recruited from April 2013 to December 2015 underwent a targeted NGS analysis, including JAG1 and Notch homolog 2 (NOTCH2). If no mutations were detected in JAG1 or NOTCH2, or if copy number variations were suggested by the NGS analysis, we performed an MLPA analysis of JAG1...
July 11, 2017: Acta Paediatrica
https://www.readbyqxmd.com/read/28683534/a-case-of-alagille-syndrome-presenting-with-chronic-cholestasis-in-an-adult
#5
Jihye Kim, Bumhee Yang, Namyoung Paik, Yon Ho Choe, Yong-Han Paik
Alagille syndrome (AGS) is a complex multisystem disorder that involves mainly the liver, heart, eyes, face, and skeleton. The main associated clinical features are chronic cholestasis due to a paucity of intrahepatic bile ducts, congenital heart disease primarily affecting pulmonary arteries, vertebral abnormalities, ocular embryotoxon, and peculiar facies. The manifestations generally become evident at a pediatric age. AGS is caused by defects in the Notch signaling pathway due to mutations in JAG1 or NOTCH2...
July 7, 2017: Clinical and Molecular Hepatology
https://www.readbyqxmd.com/read/28660405/xanthogranulomatous-osteomyelitis-of-the-humerus-in-a-pediatric-patient-with-alagille-syndrome-a-case-report-and-literature-review
#6
Adnan Cheema, Alexandre Arkader, Bruce Pawel
Xanthogranulomatous osteomyelitis (XO) is an exceedingly rare disease characterized by infiltration of histiocytes and foamy macrophages. Both on gross examination and on radiographs, XO can mimic malignancy. We describe the case of a 5-year-old female with Alagille syndrome who presented with a pathologic fracture of the right humerus. Initial radiographs revealed multiple osteolytic lesions in the distal humerus while MRI showed a large soft tissue mass. Biopsy confirmed the diagnosis of XO, which has hitherto not been described in a patient with Alagille syndrome...
June 28, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/28644566/clinical-characteristics-and-outcome-of-liver-transplantation-for-alagille-syndrome-in-children
#7
Tao Zhou, Jianjun Zhang, Yi Luo, Yuan Liu, Sy Zhuang, Feng Xue, Longzhi Han, Qiang Xia
AIM: The aim of this study was to analyze clinical characteristics and outcome of liver transplantation for Alagille syndrome in children. METHOD: By retrospectively reviewing the medical records of 9 Alagille syndrome patients(AGS) with liver transplantation(LT) in Renji Hospital between 2006 and 2015,After operative,the height and weight Z score were compared with preoperative. RESULT: There were 9 patients included in the study; cholestasis and peculiar faces were seen in all of the patients (100%), heart defect in 8 patients (88...
June 23, 2017: Journal of Digestive Diseases
https://www.readbyqxmd.com/read/28600057/molecular-genetic-characterization-of-a-prenatally-detected-de-novo-interstitial-deletion-of-chromosome-20p-20p12-p13-encompassing-jag1-and-a-literature-review-of-prenatal-diagnosis-of-alagille-syndrome
#8
Chih-Ping Chen, Chang-Sheng Yin, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wen-Lin Chen, Wayseen Wang
OBJECTIVE: We present prenatal diagnosis and molecular genetic characterization of a de novo interstitial deletion of chromosome 20p (20p12-p13) and a literature review of prenatal diagnosis of Alagille syndrome (ALGS). CASE REPORT: A 33-year-old woman underwent amniocentesis at 17 weeks of gestation because of an abnormal result of combined first-trimester screening. Her husband was 35 years old, and there was no family history of congenital malformations. Amniocentesis revealed a karyotype of 46,XY,del(20)(p12p13), and array comparative genomic hybridization analysis on uncultured amniocytes revealed a 3...
June 2017: Taiwanese Journal of Obstetrics & Gynecology
https://www.readbyqxmd.com/read/28583322/ocular-findings-in-patients-with-cholestatic-disorders-of-infancy-a-single-centre-experience
#9
Hanaa El-Karaksy, Dalia Hamed, Hanan Fouad, Engy Mogahed, Heba Helmy, Fotouh Hasanain
BACKGROUND AND STUDY AIMS: Neonatal cholestasis can be associated with ocular findings that might aid in its diagnosis, e.g., Alagille syndrome (AGS) and Niemann Pick disease (NPD). We aimed to investigate the frequency of ocular manifestations in infants with cholestasis. PATIENTS AND METHODS: This cross-sectional study included cholestatic infants presenting to the Paediatric Hepatology Unit, Cairo University Paediatric Hospital, Cairo, Egypt. All infants underwent examination of lid, ocular motility, anterior and posterior segments and measurement of intraocular pressure, cycloplegic refraction, ocular ultrasonography and vision...
June 2, 2017: Arab Journal of Gastroenterology: the Official Publication of the Pan-Arab Association of Gastroenterology
https://www.readbyqxmd.com/read/28566723/requirement-for-jagged1-notch2-signaling-in-patterning-the-bones-of-the-mouse-and-human-middle-ear
#10
Camilla S Teng, Hai-Yun Yen, Lindsey Barske, Bea Smith, Juan Llamas, Neil Segil, John Go, Pedro A Sanchez-Lara, Robert E Maxson, J Gage Crump
Whereas Jagged1-Notch2 signaling is known to pattern the sensorineural components of the inner ear, its role in middle ear development has been less clear. We previously reported a role for Jagged-Notch signaling in shaping skeletal elements derived from the first two pharyngeal arches of zebrafish. Here we show a conserved requirement for Jagged1-Notch2 signaling in patterning the stapes and incus middle ear bones derived from the equivalent pharyngeal arches of mammals. Mice lacking Jagged1 or Notch2 in neural crest-derived cells (NCCs) of the pharyngeal arches display a malformed stapes...
May 31, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28526690/emerging-concepts-in-biliary-repair-and-fibrosis
#11
REVIEW
Luca Fabris, Carlo Spirli, Massimiliano Cadamuro, Romina Fiorotto, Mario Strazzabosco
Chronic diseases of the biliary tree (cholangiopathies) represent one of the major unmet needs in clinical hepatology and a significant knowledge gap in liver pathophysiology. The common theme in cholangiopathies is that the target of the disease is the biliary tree. After damage to the biliary epithelium, inflammatory changes stimulate a reparative response with proliferation of cholangiocytes and restoration of the biliary architecture, owing to the reactivation of a variety of morphogenetic signals. Chronic damage and inflammation will ultimately result in pathological repair with generation of biliary fibrosis and clinical progression of the disease...
August 1, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28512196/the-developmental-biology-of-genetic-notch-disorders
#12
REVIEW
Jan Mašek, Emma R Andersson
Notch signaling regulates a vast array of crucial developmental processes. It is therefore not surprising that mutations in genes encoding Notch receptors or ligands lead to a variety of congenital disorders in humans. For example, loss of function of Notch results in Adams-Oliver syndrome, Alagille syndrome, spondylocostal dysostosis and congenital heart disorders, while Notch gain of function results in Hajdu-Cheney syndrome, serpentine fibula polycystic kidney syndrome, infantile myofibromatosis and lateral meningocele syndrome...
May 15, 2017: Development
https://www.readbyqxmd.com/read/28504186/alagille-s-syndrome-hypoplasia-of-posterior-semicircular-canals
#13
Alexandre Perez-Girbes, Miguel Mazón, Elena Pont
No abstract text is available yet for this article.
May 11, 2017: Acta Otorrinolaringológica Española
https://www.readbyqxmd.com/read/28492167/management-of-cholestatic-pruritus-in-children-with-alagille-syndrome-case-report-and-literature-review
#14
S Ben Ameur, I Chabchoub, J Telmoudi, Y Belfitouri, O Rebah, F Lacaille, H Aloulou, A Mehrzi, M Hachicha
Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol. Drug therapy in addition to surgical intervention may be effective in many patients in reducing serum bile acids, cholesterol levels, pruritus, and skin xanthomas. In this report, we describe a child with Alagille syndrome who presented with severe pruritus and xanthomas as a consequence of severe hypercholesterolemia and discuss the treatment modalities.
December 2016: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/28465853/novel-heterozygous-mutations-in-jag1-and-notch2-genes-in-a-neonatal-patient-with-alagille-syndrome
#15
Alisa Brennan, Anil Kesavan
Alagille Syndrome (ALGS) is a rare autosomal dominant disorder that affects multiple organ systems. Cholestasis as a result of a paucity of intrahepatic bile ducts and congenital heart defects are the two most common features of ALGS. We describe a case of ALGS with novel mutations of JAG1 and NOTCH2 genes in a newborn girl with complex congenital heart disease, bilateral dysplastic kidneys, and malrotation with volvulus.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28450276/pregnancy-and-bile-acid-disorders
#16
REVIEW
Vanessa Pataia, Peter H Dixon, Catherine Williamson
During pregnancy, extensive adaptations in maternal metabolic and immunological physiology occur. Consequently, preexisting disease may be exacerbated or attenuated, and new disease susceptibility may be unmasked. Cholestatic diseases, characterized by a supraphysiological raise in bile acid levels, require careful monitoring during pregnancy. This review describes the latest advances in the knowledge of intrahepatic cholestasis of pregnancy (ICP), the most common bile acid disorder specific to pregnancy, with a focus on the disease etiology and potential mechanisms of ICP-associated adverse pregnancy outcomes, including fetal demise...
July 1, 2017: American Journal of Physiology. Gastrointestinal and Liver Physiology
https://www.readbyqxmd.com/read/28356265/programmatic-approach-to-management-of-tetralogy-of-fallot-with-major-aortopulmonary-collateral-arteries-a-15-year-experience-with-458-patients
#17
MULTICENTER STUDY
Holly Bauser-Heaton, Alejandro Borquez, Brian Han, Michael Ladd, Ritu Asija, Laura Downey, Andrew Koth, Claudia A Algaze, Lisa Wise-Faberowski, Stanton B Perry, Andrew Shin, Lynn F Peng, Frank L Hanley, Doff B McElhinney
BACKGROUND: Tetralogy of Fallot with major aortopulmonary collateral arteries is a complex and heterogeneous condition. Our institutional approach to this lesion emphasizes early complete repair with the incorporation of all lung segments and extensive lobar and segmental pulmonary artery reconstruction. METHODS AND RESULTS: We reviewed all patients who underwent surgical intervention for tetralogy of Fallot and major aortopulmonary collateral arteries at Lucile Packard Children's Hospital Stanford (LPCHS) since November 2001...
April 2017: Circulation. Cardiovascular Interventions
https://www.readbyqxmd.com/read/28260452/unusual-indications-for-a-liver-transplant-a-single-center-experience
#18
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/28231074/on-the-pathogenesis-of-central-liver-nodules-in-alagille-syndrome
#19
Louis Libbrecht, David Cassiman
No abstract text is available yet for this article.
March 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28230293/influence-of-complex-childhood-diseases-on-variation-in-growth-and-skeletal-development
#20
REVIEW
Babette S Zemel
The study of human growth and skeletal development by human biologists is framed by the larger theoretical concerns regarding the underpinnings of population variation and human evolution. This unique perspective is directly relevant to the assessment of child health and well-being at the individual and group level, as well as the construction of growth charts. Environmental, behavioral (nutrition and physical activity), and disease-related factors can prevent attainment of full genetic potential for growth...
March 2017: American Journal of Human Biology: the Official Journal of the Human Biology Council
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